Variant report

Variant	esv2764209
Chromosome Location	chr1:155175657-155201064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2507)
CpG islands
(count:2075)
Chromatin interactive
region (count:177)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2507 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:155178519-155178665	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:155196578-155196994	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:155196486-155197271	K562	blood:	n/a	n/a
4	ATF1	chr1:155188710-155188996	K562	blood:	n/a	n/a
5	ATF1	chr1:155194483-155194805	K562	blood:	n/a	n/a
6	ATF1	chr1:155192881-155193170	K562	blood:	n/a	n/a
7	ATF1	chr1:155178253-155178650	K562	blood:	n/a	n/a
8	ATF2	chr1:155196936-155197811	GM12878	blood:	n/a	n/a
9	ATF2	chr1:155197384-155197964	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr1:155176575-155179396	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr1:155196944-155197904	GM12878	blood:	n/a	n/a
12	ATF2	chr1:155178061-155178841	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr1:155176546-155177752	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr1:155196290-155196702	GM12878	blood:	n/a	n/a
15	ATF2	chr1:155197384-155197948	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr1:155196208-155196851	GM12878	blood:	n/a	n/a
17	ATF3	chr1:155178281-155178889	K562	blood:	n/a	n/a
18	ATF3	chr1:155189353-155189656	H1-hESC	embryonic stem cell:	n/a	chr1:155189481-155189490
19	ATF3	chr1:155194392-155194847	K562	blood:	n/a	n/a
20	ATF3	chr1:155188661-155188974	H1-hESC	embryonic stem cell:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
21	ATF3	chr1:155188657-155188922	HepG2	liver:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
22	ATF3	chr1:155188686-155188991	GM12878	blood:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
23	ATF3	chr1:155189415-155189608	GM12878	blood:	n/a	chr1:155189481-155189490
24	ATF3	chr1:155189316-155189697	GM12878	blood:	n/a	chr1:155189481-155189490
25	ATF3	chr1:155188671-155188931	K562	blood:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
26	ATF3	chr1:155188647-155189041	H1-hESC	embryonic stem cell:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
27	ATF3	chr1:155188638-155189090	GM12878	blood:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
28	ATF3	chr1:155188700-155189110	HepG2	liver:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
29	ATF3	chr1:155189276-155189599	K562	blood:	n/a	chr1:155189481-155189490
30	ATF3	chr1:155189186-155189737	H1-hESC	embryonic stem cell:	n/a	chr1:155189481-155189490
31	BACH1	chr1:155197223-155197305	K562	blood:	n/a	n/a
32	BACH1	chr1:155176642-155177085	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr1:155179074-155179257	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr1:155177919-155178790	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr1:155179748-155179808	K562	blood:	n/a	n/a
36	BACH1	chr1:155196510-155197939	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr1:155196500-155196997	K562	blood:	n/a	n/a
38	BATF	chr1:155176651-155176930	GM12878	blood:	n/a	n/a
39	BCL3	chr1:155176570-155177481	A549	lung:	n/a	n/a
40	BCL3	chr1:155178952-155179415	A549	lung:	n/a	n/a
41	BCL3	chr1:155196164-155198121	A549	lung:	n/a	n/a
42	BCL3	chr1:155178543-155179417	A549	lung:	n/a	n/a
43	BCL3	chr1:155177794-155178665	A549	lung:	n/a	chr1:155178322-155178331
44	BCL3	chr1:155176610-155177561	A549	lung:	n/a	n/a
45	BCLAF1	chr1:155176507-155176969	GM12878	blood:	n/a	n/a
46	BCLAF1	chr1:155196322-155197414	GM12878	blood:	n/a	n/a
47	BDP1	chr1:155196158-155197032	Hela-S3	cervix:	n/a	n/a
48	BDP1	chr1:155193690-155194244	Hela-S3	cervix:	n/a	chr1:155193724-155193737
49	BHLHE40	chr1:155193025-155193187	K562	blood:	n/a	n/a
50	BHLHE40	chr1:155176689-155177071	K562	blood:	n/a	n/a

(count:2075 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155176341-155176391	GM12891	blood:	n/a
2	chr1:155176341-155176391	GM12891	blood:	n/a
3	chr1:155178215-155178265	SK-N-MC	brain:	n/a
4	chr1:155197279-155197329	ProgFib	skin:	n/a
5	chr1:155177561-155177611	H1-hESC	embryonic stem cell:	embryo
6	chr1:155179117-155179167	ovcar-3	ovarian:	n/a
7	chr1:155178407-155178457	HMEC	breast:	n/a
8	chr1:155178555-155178605	AG09309	skin:	n/a
9	chr1:155176341-155176391	Caco-2	colon:	n/a
10	chr1:155178407-155178457	GM12892	blood:	n/a
11	chr1:155188904-155188954	AoSMC	blood vessel:	n/a
12	chr1:155178670-155178720	NT2-D1	testis:	n/a
13	chr1:155177237-155177287	HepG2	liver:	n/a
14	chr1:155178670-155178720	BE2_C	brain:	n/a
15	chr1:155176868-155176918	GM06990	blood:	n/a
16	chr1:155177237-155177287	LNCaP	prostate:	n/a
17	chr1:155197511-155197561	AG04449	skin:	fetal
18	chr1:155194782-155194832	HRCEpiC	kidney:	n/a
19	chr1:155179135-155179185	AG10803	skin:	n/a
20	chr1:155197152-155197202	GM06990	blood:	n/a
21	chr1:155197279-155197329	SK-N-SH_RA	brain:	n/a
22	chr1:155188904-155188954	HNPCEpiC	eye:	n/a
23	chr1:155179135-155179185	A549	lung:	n/a
24	chr1:155178407-155178457	HepG2	liver:	n/a
25	chr1:155178248-155178298	NB4	blood:	n/a
26	chr1:155178670-155178720	BJ	skin:	n/a
27	chr1:155197152-155197202	Hepatocyte	liver:	n/a
28	chr1:155197692-155197742	NHDF-neo	bronchial:	n/a
29	chr1:155179135-155179185	HUVEC	blood vessel:	n/a
30	chr1:155178670-155178720	GM06990	blood:	n/a
31	chr1:155179254-155179304	K562	blood:	n/a
32	chr1:155197692-155197742	SKMC	muscle:	n/a
33	chr1:155178555-155178605	HIPEpiC	eye:	n/a
34	chr1:155188904-155188954	GM12891	blood:	n/a
35	chr1:155178215-155178265	NHDF-neo	bronchial:	n/a
36	chr1:155177783-155177833	Caco-2	colon:	n/a
37	chr1:155178248-155178298	NHBE	bronchial:	n/a
38	chr1:155176341-155176391	SAEC	small airway:	n/a
39	chr1:155177561-155177611	U87	brain:	n/a
40	chr1:155188904-155188954	HEEpiC	esophagus:	n/a
41	chr1:155179138-155179188	SKMC	muscle:	n/a
42	chr1:155179135-155179185	BJ	skin:	n/a
43	chr1:155195300-155195350	SAEC	small airway:	n/a
44	chr1:155197753-155197803	K562	blood:	n/a
45	chr1:155176868-155176918	NHDF-neo	bronchial:	n/a
46	chr1:155188904-155188954	PFSK-1	brain:	n/a
47	chr1:155178407-155178457	AG10803	skin:	n/a
48	chr1:155178215-155178265	MCF-7	breast:	n/a
49	chr1:155200357-155200407	GM06990	blood:	n/a
50	chr1:155178248-155178298	HNPCEpiC	eye:	n/a

(count:177 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:155162384..155165288-chr1:155195792..155197762,4	MCF-7	breast:
2	chr1:155197109..155197807-chr1:155214053..155214771,4	HCT-116	colon:
3	chr1:155196805..155197397-chr1:244998371..244999084,2	Hela-S3	cervix:
4	chr1:155178436..155180973-chr1:155219281..155221759,2	K562	blood:
5	chr1:155098847..155100942-chr1:155197257..155198807,2	K562	blood:
6	chr1:155176888..155180042-chr1:155214260..155216336,5	K562	blood:
7	chr1:155196898..155197468-chr17:62502350..62503311,2	Hela-S3	cervix:
8	chr1:155175738..155179299-chr1:155291621..155295870,7	K562	blood:
9	chr1:155191881..155194028-chr1:155195597..155197149,2	MCF-7	breast:
10	chr1:155174569..155177437-chr1:155233735..155235626,3	K562	blood:
11	chr1:155177559..155180202-chr1:155292394..155295375,3	MCF-7	breast:
12	chr1:155197055..155197697-chr9:131790029..131790590,2	Hela-S3	cervix:
13	chr1:155148094..155148734-chr1:155176753..155177302,2	MCF-7	breast:
14	chr1:155196517..155197108-chr12:46384125..46384821,2	Hela-S3	cervix:
15	chr1:155191881..155194028-chr1:155195597..155197149,2	MCF-7	breast:
16	chr1:155178151..155179039-chr1:155196306..155197423,3	Hela-S3	cervix:
17	chr1:70876951..70877911-chr1:155196685..155197597,2	Hela-S3	cervix:
18	chr1:155187157..155191331-chr1:155209670..155212928,5	MCF-7	breast:
19	chr1:155149084..155150074-chr1:155196318..155196838,2	MCF-7	breast:
20	chr1:155176435..155177287-chr1:155222687..155223655,2	MCF-7	breast:
21	chr1:155022097..155024403-chr1:155195809..155198176,3	MCF-7	breast:
22	chr1:155178662..155180610-chr1:155180712..155183459,2	K562	blood:
23	chr1:155190873..155193241-chr1:155231143..155233279,2	MCF-7	breast:
24	chr1:155176536..155177291-chr1:155196359..155196911,2	MCF-7	breast:
25	chr1:155187581..155189617-chr1:155195998..155199387,4	MCF-7	breast:
26	chr1:155193188..155195403-chr1:155211959..155214156,2	K562	blood:
27	chr1:94312249..94313217-chr1:155197097..155198051,2	Hela-S3	cervix:
28	chr1:155187302..155192095-chr1:155195846..155198767,7	MCF-7	breast:
29	chr1:155197587..155199547-chr1:155278190..155280905,2	MCF-7	breast:
30	chr1:155176709..155179007-chr1:155224736..155227425,3	K562	blood:
31	chr1:155196797..155197673-chr7:99698835..99699797,2	Hela-S3	cervix:
32	chr1:155179163..155181119-chr1:155277191..155279761,2	K562	blood:
33	chr1:155176699..155181010-chr1:155210436..155216018,7	K562	blood:
34	chr1:155146416..155150261-chr1:155194777..155198198,7	MCF-7	breast:
35	chr1:155195406..155199356-chr1:155210414..155216260,10	K562	blood:
36	chr1:155196887..155197681-chr11:126173810..126174418,2	Hela-S3	cervix:
37	chr1:155148823..155149771-chr1:155196116..155196635,2	K562	blood:
38	chr1:155169616..155173195-chr1:155194780..155198735,4	MCF-7	breast:
39	chr1:155197041..155197714-chrX:47341942..47342834,2	Hela-S3	cervix:
40	chr1:155196885..155197608-chr12:112846625..112847275,2	Hela-S3	cervix:
41	chr1:155196808..155197366-chr3:49448953..49449687,2	Hela-S3	cervix:
42	chr1:155175323..155177238-chr1:155291621..155294519,2	K562	blood:
43	chr1:155196583..155198165-chr11:66405632..66407790,2	MCF-7	breast:
44	chr1:155169679..155172666-chr1:155186873..155189391,3	MCF-7	breast:
45	chr1:155186661..155189522-chr1:155194169..155197986,6	K562	blood:
46	chr1:155177619..155178135-chr1:155196442..155197036,2	MCF-7	breast:
47	chr1:155178616..155179512-chr5:170814374..170815238,2	Hela-S3	cervix:
48	chr1:155197117..155197977-chr1:155214252..155214763,4	MCF-7	breast:
49	chr1:148241110..148242082-chr1:155197046..155197929,2	Hela-S3	cervix:
50	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GBA-1	chr1:155201063-155203428	NONHSAT006710
2	lnc-THBS3-1	chr1:155183431-155183610	ENSG00000236263.1
3	lnc-THBS3-1	chr1:155180942-155181329	ENSG00000236263.1

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MTX1	hsa-miR-1	chr1:155183531-155183537

Variant related genes	Relation type
THBS3	TF binding region
MTX1	TF binding region
MTX1P1	TF binding region
ENSG00000236263	TF binding region
GBAP1	TF binding region
THBS3	CpG island
MTX1	CpG island
MTX1P1	CpG island
ENSG00000236263	CpG island
GBAP1	CpG island
ENSG00000117450	chromatin interactions
ENSG00000143537	chromatin interactions
ENSG00000072778	chromatin interactions
ENSG00000255062	chromatin interactions
ENSG00000173933	chromatin interactions
ENSG00000143630	chromatin interactions
ENSG00000119953	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000147124	chromatin interactions
ENSG00000074266	chromatin interactions
ENSG00000169241	chromatin interactions
ENSG00000112679	chromatin interactions
ENSG00000231064	chromatin interactions
ENSG00000223478	chromatin interactions
ENSG00000132535	chromatin interactions
ENSG00000152348	chromatin interactions
ENSG00000116830	chromatin interactions
ENSG00000271748	chromatin interactions
ENSG00000132676	chromatin interactions
ENSG00000160767	chromatin interactions
ENSG00000225855	chromatin interactions
ENSG00000197912	chromatin interactions
ENSG00000089693	chromatin interactions
ENSG00000243364	chromatin interactions
ENSG00000163462	chromatin interactions
ENSG00000273088	chromatin interactions
ENSG00000167977	chromatin interactions
ENSG00000176444	chromatin interactions
ENSG00000177628	chromatin interactions
ENSG00000100353	chromatin interactions
ENSG00000163374	chromatin interactions
ENSG00000118960	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000139218	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000148337	chromatin interactions
ENSG00000137203	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000169242	chromatin interactions
ENSG00000176476	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000260464	chromatin interactions
ENSG00000163463	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000229848	chromatin interactions
ENSG00000148341	chromatin interactions
ENSG00000236675	chromatin interactions
ENSG00000137449	chromatin interactions
ENSG00000160446	chromatin interactions
ENSG00000181163	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000185442	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000185499	chromatin interactions
ENSG00000160752	chromatin interactions
ENSG00000056586	chromatin interactions
ENSG00000144579	chromatin interactions
ENSG00000089009	chromatin interactions
ENSG00000088387	chromatin interactions
ENSG00000251246	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000169231	chromatin interactions
ENSG00000203667	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000216109	chromatin interactions
ENSG00000116521	chromatin interactions
ENSG00000221838	chromatin interactions
ENSG00000173171	chromatin interactions
ENSG00000166508	chromatin interactions
ENSG00000067560	chromatin interactions
ENSG00000145022	chromatin interactions
ENSG00000116761	chromatin interactions
ENSG00000125967	chromatin interactions

Extended variants
information (count: 896 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:896 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186265205	chr1:155175685-155175686	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs569377410	chr1:155175695-155175696	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs530509410	chr1:155175702-155175703	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs563072647	chr1:155175780-155175781	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs148823194	chr1:155175799-155175800	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs566923037	chr1:155175880-155175881	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs914615	chr1:155175892-155175893	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs143461137	chr1:155175894-155175895	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs148003817	chr1:155175959-155175960	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs199898512	chr1:155176032-155176033	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs144786490	chr1:155176044-155176045	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs369537081	chr1:155176045-155176046	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs35627916	chr1:155176079-155176080	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs148551999	chr1:155176080-155176081	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs150700820	chr1:155176084-155176085	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs373792378	chr1:155176089-155176090	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs377053764	chr1:155176095-155176096	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs146410989	chr1:155176103-155176104	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs143240289	chr1:155176111-155176112	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs555047689	chr1:155176115-155176116	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs201765748	chr1:155176151-155176152	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs370387987	chr1:155176157-155176158	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs200951846	chr1:155176167-155176168	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs143484888	chr1:155176247-155176248	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs111649925	chr1:155176248-155176249	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs147172141	chr1:155176260-155176261	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs547225273	chr1:155176261-155176262	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs550324551	chr1:155176290-155176291	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs562735879	chr1:155176297-155176298	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs530568169	chr1:155176385-155176386	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs370848690	chr1:155176400-155176401	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs542318341	chr1:155176404-155176405	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs566959712	chr1:155176424-155176425	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs111815756	chr1:155176425-155176426	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs528102610	chr1:155176463-155176464	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs546248186	chr1:155176470-155176471	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs182936472	chr1:155176480-155176481	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs529746027	chr1:155176484-155176485	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs569069755	chr1:155176490-155176491	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs551979843	chr1:155176502-155176503	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs6700457	chr1:155176576-155176577	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs376635006	chr1:155176581-155176582	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs536404290	chr1:155176595-155176596	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs555118002	chr1:155176647-155176648	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs558517859	chr1:155176771-155176772	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs566825244	chr1:155176790-155176791	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs368736172	chr1:155176801-155176802	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs138779407	chr1:155176869-155176870	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs558664645	chr1:155176938-155176939	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs577508845	chr1:155176993-155176994	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2133 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155163600-155177400	Weak transcription	Small Intestine	intestine
2	chr1:155164800-155176800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:155165000-155176600	Weak transcription	Liver	Liver
4	chr1:155165000-155176800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:155165400-155176600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:155165400-155176800	Weak transcription	Right Atrium	heart
7	chr1:155165400-155176800	Weak transcription	Right Ventricle	heart
8	chr1:155165400-155177000	Weak transcription	Thymus	Thymus
9	chr1:155165600-155176600	Weak transcription	Fetal Kidney	kidney
10	chr1:155165600-155176600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:155165600-155176800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:155165600-155176800	Weak transcription	HMEC	breast
13	chr1:155165800-155176000	Strong transcription	Fetal Intestine Small	intestine
14	chr1:155165800-155176600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:155165800-155176800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:155166000-155176600	Weak transcription	Fetal Thymus	thymus
17	chr1:155166000-155176800	Weak transcription	K562	blood
18	chr1:155166400-155175800	Strong transcription	Fetal Stomach	stomach
19	chr1:155166400-155176200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:155167000-155177200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:155167200-155176400	Weak transcription	Fetal Brain Male	brain
22	chr1:155168400-155176200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:155168400-155176200	Weak transcription	HSMM	muscle
24	chr1:155168400-155176600	Weak transcription	Adipose Nuclei	Adipose
25	chr1:155168400-155176600	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:155168400-155176600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:155168400-155176800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:155168400-155176800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:155168400-155176800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:155168400-155176800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:155168400-155176800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:155168400-155176800	Weak transcription	Spleen	Spleen
33	chr1:155168600-155176400	Weak transcription	Placenta	Placenta
34	chr1:155168600-155176600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:155168600-155176600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:155168600-155176600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:155168600-155176600	Weak transcription	Pancreas	Pancrea
38	chr1:155168600-155176600	Weak transcription	Dnd41	blood
39	chr1:155168600-155176800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:155168600-155176800	Weak transcription	NH-A	brain
41	chr1:155170200-155175800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:155170800-155176600	Weak transcription	Osteobl	bone
43	chr1:155170800-155176800	Weak transcription	Ovary	ovary
44	chr1:155171000-155175800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:155171200-155175800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:155171200-155176800	Weak transcription	Brain Substantia Nigra	brain
47	chr1:155171200-155176800	Weak transcription	Colonic Mucosa	Colon
48	chr1:155171200-155176800	Weak transcription	Lung	lung
49	chr1:155171400-155176600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:155171400-155177000	Weak transcription	Aorta	Aorta

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