Variant report

Variant	esv3373583
Chromosome Location	chr1:155183155-155203622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1586)
CpG islands
(count:1098)
Chromatin interactive
region (count:121)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1586 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:155196578-155196994	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:155196486-155197271	K562	blood:	n/a	n/a
3	ATF1	chr1:155192881-155193170	K562	blood:	n/a	n/a
4	ATF1	chr1:155194483-155194805	K562	blood:	n/a	n/a
5	ATF1	chr1:155188710-155188996	K562	blood:	n/a	n/a
6	ATF2	chr1:155196936-155197811	GM12878	blood:	n/a	n/a
7	ATF2	chr1:155196944-155197904	GM12878	blood:	n/a	n/a
8	ATF2	chr1:155197384-155197948	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr1:155196208-155196851	GM12878	blood:	n/a	n/a
10	ATF2	chr1:155196290-155196702	GM12878	blood:	n/a	n/a
11	ATF2	chr1:155197384-155197964	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr1:155188700-155189110	HepG2	liver:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
13	ATF3	chr1:155194392-155194847	K562	blood:	n/a	n/a
14	ATF3	chr1:155188686-155188991	GM12878	blood:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
15	ATF3	chr1:155188657-155188922	HepG2	liver:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
16	ATF3	chr1:155188638-155189090	GM12878	blood:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
17	ATF3	chr1:155189316-155189697	GM12878	blood:	n/a	chr1:155189481-155189490
18	ATF3	chr1:155189353-155189656	H1-hESC	embryonic stem cell:	n/a	chr1:155189481-155189490
19	ATF3	chr1:155188671-155188931	K562	blood:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
20	ATF3	chr1:155189276-155189599	K562	blood:	n/a	chr1:155189481-155189490
21	ATF3	chr1:155189415-155189608	GM12878	blood:	n/a	chr1:155189481-155189490
22	ATF3	chr1:155188647-155189041	H1-hESC	embryonic stem cell:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
23	ATF3	chr1:155188661-155188974	H1-hESC	embryonic stem cell:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
24	ATF3	chr1:155189186-155189737	H1-hESC	embryonic stem cell:	n/a	chr1:155189481-155189490
25	BACH1	chr1:155196500-155196997	K562	blood:	n/a	n/a
26	BACH1	chr1:155196510-155197939	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr1:155197223-155197305	K562	blood:	n/a	n/a
28	BCL3	chr1:155196164-155198121	A549	lung:	n/a	n/a
29	BCLAF1	chr1:155196322-155197414	GM12878	blood:	n/a	n/a
30	BDP1	chr1:155193690-155194244	Hela-S3	cervix:	n/a	chr1:155193724-155193737
31	BDP1	chr1:155196158-155197032	Hela-S3	cervix:	n/a	n/a
32	BHLHE40	chr1:155197067-155197817	GM12878	blood:	n/a	n/a
33	BHLHE40	chr1:155193025-155193187	K562	blood:	n/a	n/a
34	BHLHE40	chr1:155196870-155197655	HepG2	liver:	n/a	n/a
35	BHLHE40	chr1:155196326-155197943	K562	blood:	n/a	n/a
36	BHLHE40	chr1:155194516-155194887	K562	blood:	n/a	n/a
37	BHLHE40	chr1:155196322-155196799	GM12878	blood:	n/a	n/a
38	BHLHE40	chr1:155189313-155189626	K562	blood:	n/a	n/a
39	BHLHE40	chr1:155188705-155188957	K562	blood:	n/a	chr1:155188816-155188837
40	BRCA1	chr1:155196161-155198275	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr1:155197194-155197495	GM12878	blood:	n/a	n/a
42	BRCA1	chr1:155196488-155197307	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr1:155193712-155193748	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr1:155185354-155185365	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr1:155197279-155197444	HepG2	liver:	n/a	n/a
46	BRF1	chr1:155194594-155195036	Hela-S3	cervix:	n/a	n/a
47	CBX3	chr1:155188581-155189108	K562	blood:	n/a	n/a
48	CBX3	chr1:155201138-155201473	K562	blood:	n/a	n/a
49	CBX3	chr1:155196179-155198094	K562	blood:	n/a	n/a
50	CCNT2	chr1:155196761-155197454	K562	blood:	n/a	n/a

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155198391-155198441	HRCEpiC	kidney:	n/a
2	chr1:155200357-155200407	HL-60	blood:	n/a
3	chr1:155188904-155188954	NT2-D1	testis:	n/a
4	chr1:155198391-155198441	HUVEC	blood vessel:	n/a
5	chr1:155197753-155197803	PFSK-1	brain:	n/a
6	chr1:155197384-155197434	BJ	skin:	n/a
7	chr1:155197384-155197434	NB4	blood:	n/a
8	chr1:155197152-155197202	AG10803	skin:	n/a
9	chr1:155202674-155202724	AG10803	skin:	n/a
10	chr1:155197279-155197329	SKMC	muscle:	n/a
11	chr1:155197502-155197552	HCPEpiC	choroid plexus:	n/a
12	chr1:155197843-155197893	T-47D	breast:	n/a
13	chr1:155197152-155197202	HAEpiC	amniotic membrane:	n/a
14	chr1:155197152-155197202	HEK293	kidney:	embryo
15	chr1:155197843-155197893	AG10803	skin:	n/a
16	chr1:155198391-155198441	K562	blood:	n/a
17	chr1:155197384-155197434	Hela-S3	cervix:	n/a
18	chr1:155197502-155197552	AG09309	skin:	n/a
19	chr1:155194782-155194832	Hepatocyte	liver:	n/a
20	chr1:155202674-155202724	BE2_C	brain:	n/a
21	chr1:155197753-155197803	AG09309	skin:	n/a
22	chr1:155202685-155202735	GM12878	blood:	n/a
23	chr1:155197692-155197742	HPAEpiC	pulmonary alveolar:	n/a
24	chr1:155197511-155197561	SK-N-SH	brain:	n/a
25	chr1:155197692-155197742	HUVEC	blood vessel:	n/a
26	chr1:155200357-155200407	IMR90	lung:	fetal
27	chr1:155197692-155197742	GM19239	blood:	n/a
28	chr1:155202674-155202724	NH-A	brain:	n/a
29	chr1:155195300-155195350	A549	lung:	n/a
30	chr1:155188904-155188954	T-47D	breast:	n/a
31	chr1:155197502-155197552	AG10803	skin:	n/a
32	chr1:155197843-155197893	GM12892	blood:	n/a
33	chr1:155200357-155200407	HCF	heart:	n/a
34	chr1:155197564-155197614	SKMC	muscle:	n/a
35	chr1:155197384-155197434	HCF	heart:	n/a
36	chr1:155197511-155197561	LNCaP	prostate:	n/a
37	chr1:155197564-155197614	HRE	kidney:	n/a
38	chr1:155197692-155197742	HRCEpiC	kidney:	n/a
39	chr1:155198391-155198441	RPTEC	kidney:	n/a
40	chr1:155194782-155194832	HCPEpiC	choroid plexus:	n/a
41	chr1:155197564-155197614	T-47D	breast:	n/a
42	chr1:155194782-155194832	BE2_C	brain:	n/a
43	chr1:155189053-155189103	HRCEpiC	kidney:	n/a
44	chr1:155197152-155197202	HEEpiC	esophagus:	n/a
45	chr1:155197152-155197202	HL-60	blood:	n/a
46	chr1:155197384-155197434	GM06990	blood:	n/a
47	chr1:155188904-155188954	ECC-1	luminal epithelium:	n/a
48	chr1:155198391-155198441	PrEC	prostate:	n/a
49	chr1:155202685-155202735	HPAEpiC	pulmonary alveolar:	n/a
50	chr1:155197511-155197561	MCF-7	breast:	n/a

(count:121 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:155187157..155191331-chr1:155209670..155212928,5	MCF-7	breast:
2	chr1:155186477..155191173-chr1:155191711..155194571,4	MCF-7	breast:
3	chr1:155194530..155197215-chr1:155242223..155244850,3	K562	blood:
4	chr1:155187581..155189617-chr1:155195998..155199387,4	MCF-7	breast:
5	chr1:155162153..155164913-chr1:155193095..155194598,2	MCF-7	breast:
6	chr1:155155866..155157645-chr1:155191595..155193213,2	MCF-7	breast:
7	chr1:155036142..155036795-chr1:155197045..155197679,2	Hela-S3	cervix:
8	chr1:155196583..155198165-chr11:66405632..66407790,2	MCF-7	breast:
9	chr1:155197109..155197807-chr1:155214053..155214771,4	HCT-116	colon:
10	chr1:155196803..155197423-chr12:6862306..6863139,2	Hela-S3	cervix:
11	chr1:155196791..155199483-chr1:155201481..155203519,3	K562	blood:
12	chr1:155175739..155181576-chr1:155185947..155190429,10	K562	blood:
13	chr1:155165613..155168147-chr1:155195516..155197930,3	K562	blood:
14	chr1:155200769..155203124-chr1:155222632..155225230,2	K562	blood:
15	chr1:155197215..155198001-chr17:7122908..7123728,2	Hela-S3	cervix:
16	chr1:155196826..155197379-chr1:155293682..155294339,2	NB4	blood:
17	chr1:155149084..155150074-chr1:155196318..155196838,2	MCF-7	breast:
18	chr1:155186661..155189522-chr1:155194169..155197986,6	K562	blood:
19	chr1:155196998..155197555-chr17:79480649..79481503,2	Hela-S3	cervix:
20	chr1:155098008..155101008-chr1:155194682..155198746,4	MCF-7	breast:
21	chr1:155196896..155197663-chr2:219264116..219264834,2	Hela-S3	cervix:
22	chr1:155197347..155198292-chr6:291990..292775,2	Hela-S3	cervix:
23	chr1:155195512..155198962-chr1:155200125..155202735,3	MCF-7	breast:
24	chr1:155195599..155199380-chr1:155211353..155216703,7	MCF-7	breast:
25	chr1:155191881..155194028-chr1:155195597..155197149,2	MCF-7	breast:
26	chr1:155175944..155179285-chr1:155187472..155192193,6	MCF-7	breast:
27	chr1:155196808..155197366-chr3:49448953..49449687,2	Hela-S3	cervix:
28	chr1:155197587..155199547-chr1:155278190..155280905,2	MCF-7	breast:
29	chr1:155054721..155059011-chr1:155196588..155199418,3	K562	blood:
30	chr1:155174590..155181850-chr1:155192419..155201858,28	K562	blood:
31	chr1:155196819..155197743-chr6:10414963..10415769,2	Hela-S3	cervix:
32	chr1:117602404..117603075-chr1:155196850..155197424,2	Hela-S3	cervix:
33	chr1:155196805..155197610-chr9:131486404..131487395,2	Hela-S3	cervix:
34	chr1:155187302..155192095-chr1:155195846..155198767,7	MCF-7	breast:
35	chr1:155193188..155195403-chr1:155211959..155214156,2	K562	blood:
36	chr1:155197055..155197697-chr9:131790029..131790590,2	Hela-S3	cervix:
37	chr1:155196887..155197570-chr4:15003910..15004860,2	Hela-S3	cervix:
38	chr1:155178845..155181651-chr1:155183857..155185772,2	MCF-7	breast:
39	chr1:155191881..155194028-chr1:155195597..155197149,2	MCF-7	breast:
40	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:
41	chr1:155098847..155100942-chr1:155197257..155198807,2	K562	blood:
42	chr1:155177619..155178135-chr1:155196442..155197036,2	MCF-7	breast:
43	chr1:155195512..155198962-chr1:155200125..155202735,3	MCF-7	breast:
44	chr1:155148823..155149771-chr1:155196116..155196635,2	K562	blood:
45	chr1:70876951..70877911-chr1:155196685..155197597,2	Hela-S3	cervix:
46	chr1:145381905..145382698-chr1:155196540..155197297,2	Hela-S3	cervix:
47	chr1:155022097..155024403-chr1:155195809..155198176,3	MCF-7	breast:
48	chr1:155195406..155199356-chr1:155210414..155216260,10	K562	blood:
49	chr1:155192189..155193749-chr1:155195303..155196996,2	MCF-7	breast:
50	chr1:155193544..155197336-chr1:155293049..155296583,5	MCF-7	breast:

(count:2 , 50 per page) page: 1

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

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

Extended variants
information (count: 699 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:699 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199532690	chr1:155183578-155183579	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs151072109	chr1:155183628-155183629	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs534229351	chr1:155183968-155183969	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs559165218	chr1:155183992-155183993	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs375178849	chr1:155183994-155183995	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs544372837	chr1:155184001-155184002	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs563073530	chr1:155184017-155184018	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs574981574	chr1:155184044-155184045	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs114312440	chr1:155184057-155184058	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs560721684	chr1:155184060-155184061	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs187292124	chr1:155184067-155184068	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs546585292	chr1:155184145-155184146	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs565140972	chr1:155184164-155184165	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs201171344	chr1:155184166-155184167	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs532367999	chr1:155184170-155184171	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs550772648	chr1:155184237-155184238	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs113825752	chr1:155184244-155184245	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs569408727	chr1:155184316-155184317	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs536339369	chr1:155184360-155184361	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs421050	chr1:155184367-155184368	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs371622607	chr1:155184369-155184370	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs200207887	chr1:155184381-155184382	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs142810136	chr1:155184391-155184392	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs146090650	chr1:155184412-155184413	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs572384811	chr1:155184416-155184417	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs577102665	chr1:155184421-155184422	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs191742221	chr1:155184425-155184426	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs556332276	chr1:155184438-155184439	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs575347554	chr1:155184507-155184508	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs542358073	chr1:155184508-155184509	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs554605871	chr1:155184511-155184512	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs539864533	chr1:155184528-155184529	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs572763544	chr1:155184543-155184544	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs181875912	chr1:155184553-155184554	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs565205637	chr1:155184564-155184565	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs532432118	chr1:155184576-155184577	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs544458766	chr1:155184600-155184601	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs562669238	chr1:155184619-155184620	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs529857666	chr1:155184622-155184623	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs186369638	chr1:155184627-155184628	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs566930730	chr1:155184642-155184643	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs527713857	chr1:155184704-155184705	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs552139073	chr1:155184731-155184732	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs573936847	chr1:155184761-155184762	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs570852351	chr1:155184764-155184765	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs538148478	chr1:155184765-155184766	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs201544916	chr1:155184831-155184832	Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs568566765	chr1:155184840-155184841	Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs536010591	chr1:155184883-155184884	Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs554387812	chr1:155184884-155184885	Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155179600-155184400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:155179600-155184400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:155179600-155184400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:155179600-155184600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:155179600-155184600	Weak transcription	Brain Anterior Caudate	brain
6	chr1:155179600-155184600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:155179600-155188200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:155179600-155189000	Weak transcription	Stomach Mucosa	stomach
9	chr1:155179600-155189200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:155179600-155189200	Weak transcription	Colonic Mucosa	Colon
11	chr1:155179600-155189200	Weak transcription	Psoas Muscle	Psoas
12	chr1:155179600-155195400	Weak transcription	Aorta	Aorta
13	chr1:155179600-155195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
15	chr1:155179600-155196600	Weak transcription	Gastric	stomach
16	chr1:155179600-155196600	Weak transcription	Small Intestine	intestine
17	chr1:155179800-155184200	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:155179800-155184800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:155179800-155185400	Weak transcription	Brain Substantia Nigra	brain
20	chr1:155179800-155188600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:155179800-155188600	Weak transcription	Brain Angular Gyrus	brain
22	chr1:155179800-155188800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:155179800-155188800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:155179800-155188800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:155179800-155189000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:155179800-155193800	Weak transcription	HSMMtube	muscle
27	chr1:155180000-155184200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:155180000-155185200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:155180000-155185200	Weak transcription	Fetal Brain Female	brain
30	chr1:155180000-155185400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:155180000-155185400	Weak transcription	Fetal Thymus	thymus
32	chr1:155180000-155188600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:155180000-155188600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:155180000-155188600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:155180000-155188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:155180000-155188800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:155180000-155188800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:155180000-155189200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:155180000-155194000	Weak transcription	HUVEC	blood vessel
40	chr1:155180000-155195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:155180200-155184200	Weak transcription	Brain Germinal Matrix	brain
42	chr1:155180200-155184800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:155180200-155185200	Weak transcription	A549	lung
44	chr1:155180200-155188200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:155180200-155188600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:155180200-155188600	Weak transcription	Fetal Kidney	kidney
47	chr1:155180200-155188600	Weak transcription	NHDF-Ad	bronchial
48	chr1:155180200-155188800	Weak transcription	NH-A	brain
49	chr1:155180200-155194000	Weak transcription	HSMM	muscle
50	chr1:155180400-155184200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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Variant report

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