Variant report

Variant	esv3453090
Chromosome Location	chr1:155193228-155199226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1062)
CpG islands
(count:796)
Chromatin interactive
region (count:101)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1062 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:155196486-155197271	K562	blood:	n/a	n/a
2	ARID3A	chr1:155196578-155196994	HepG2	liver:	n/a	n/a
3	ATF1	chr1:155194483-155194805	K562	blood:	n/a	n/a
4	ATF2	chr1:155197384-155197964	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:155196290-155196702	GM12878	blood:	n/a	n/a
6	ATF2	chr1:155196944-155197904	GM12878	blood:	n/a	n/a
7	ATF2	chr1:155196208-155196851	GM12878	blood:	n/a	n/a
8	ATF2	chr1:155196936-155197811	GM12878	blood:	n/a	n/a
9	ATF2	chr1:155197384-155197948	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr1:155194392-155194847	K562	blood:	n/a	n/a
11	BACH1	chr1:155196510-155197939	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr1:155197223-155197305	K562	blood:	n/a	n/a
13	BACH1	chr1:155196500-155196997	K562	blood:	n/a	n/a
14	BCL3	chr1:155196164-155198121	A549	lung:	n/a	n/a
15	BCLAF1	chr1:155196322-155197414	GM12878	blood:	n/a	n/a
16	BDP1	chr1:155193690-155194244	Hela-S3	cervix:	n/a	chr1:155193724-155193737
17	BDP1	chr1:155196158-155197032	Hela-S3	cervix:	n/a	n/a
18	BHLHE40	chr1:155194516-155194887	K562	blood:	n/a	n/a
19	BHLHE40	chr1:155197067-155197817	GM12878	blood:	n/a	n/a
20	BHLHE40	chr1:155196870-155197655	HepG2	liver:	n/a	n/a
21	BHLHE40	chr1:155196322-155196799	GM12878	blood:	n/a	n/a
22	BHLHE40	chr1:155196326-155197943	K562	blood:	n/a	n/a
23	BRCA1	chr1:155196161-155198275	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr1:155197279-155197444	HepG2	liver:	n/a	n/a
25	BRCA1	chr1:155197194-155197495	GM12878	blood:	n/a	n/a
26	BRCA1	chr1:155193712-155193748	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr1:155196488-155197307	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRF1	chr1:155194594-155195036	Hela-S3	cervix:	n/a	n/a
29	CBX3	chr1:155196179-155198094	K562	blood:	n/a	n/a
30	CCNT2	chr1:155196761-155197454	K562	blood:	n/a	n/a
31	CEBPB	chr1:155197642-155197872	K562	blood:	n/a	n/a
32	CEBPB	chr1:155194507-155194902	IMR90	lung:	n/a	n/a
33	CEBPB	chr1:155197521-155197963	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr1:155194555-155194883	A549	lung:	n/a	n/a
35	CEBPB	chr1:155196229-155197908	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr1:155194534-155194882	K562	blood:	n/a	n/a
37	CEBPB	chr1:155194010-155195055	Hela-S3	cervix:	n/a	n/a
38	CEBPD	chr1:155196381-155197697	K562	blood:	n/a	n/a
39	CEBPD	chr1:155197195-155197498	HepG2	liver:	n/a	n/a
40	CHD1	chr1:155196392-155197241	H1-hESC	embryonic stem cell:	n/a	chr1:155197234-155197241
41	CHD1	chr1:155196293-155198009	GM12878	blood:	n/a	chr1:155197234-155197241
42	CHD1	chr1:155197758-155198104	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr1:155196451-155197792	H1-hESC	embryonic stem cell:	n/a	chr1:155197234-155197241
44	CHD2	chr1:155196261-155197950	Hela-S3	cervix:	n/a	chr1:155197234-155197241
45	CHD2	chr1:155196733-155197523	HepG2	liver:	n/a	chr1:155197234-155197241
46	CHD2	chr1:155196470-155197798	K562	blood:	n/a	chr1:155197234-155197241
47	CHD2	chr1:155194477-155194985	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr1:155196341-155197918	GM12878	blood:	n/a	chr1:155197234-155197241
49	CREB1	chr1:155197143-155197681	A549	lung:	n/a	n/a
50	CTBP2	chr1:155196465-155197375	H1-hESC	embryonic stem cell:	n/a	n/a

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155197511-155197561	MCF-7	breast:	n/a
2	chr1:155197152-155197202	Hepatocyte	liver:	n/a
3	chr1:155197511-155197561	Hela-S3	cervix:	n/a
4	chr1:155197511-155197561	MCF-7	breast:	n/a
5	chr1:155197152-155197202	Hepatocyte	liver:	n/a
6	chr1:155197511-155197561	Hela-S3	cervix:	n/a
7	chr1:155197511-155197561	AG10803	skin:	n/a
8	chr1:155198391-155198441	NT2-D1	testis:	n/a
9	chr1:155195300-155195350	HRPEpiC	eye:	n/a
10	chr1:155197564-155197614	NB4	blood:	n/a
11	chr1:155197692-155197742	Hepatocyte	liver:	n/a
12	chr1:155197384-155197434	Hela-S3	cervix:	n/a
13	chr1:155197279-155197329	AG10803	skin:	n/a
14	chr1:155197279-155197329	SK-N-SH_RA	brain:	n/a
15	chr1:155197384-155197434	HUVEC	blood vessel:	n/a
16	chr1:155197511-155197561	GM12878	blood:	n/a
17	chr1:155197843-155197893	HL-60	blood:	n/a
18	chr1:155197152-155197202	GM12892	blood:	n/a
19	chr1:155197843-155197893	Jurkat	blood:	n/a
20	chr1:155197152-155197202	NH-A	brain:	n/a
21	chr1:155197152-155197202	HAEpiC	amniotic membrane:	n/a
22	chr1:155197173-155197223	HRCEpiC	kidney:	n/a
23	chr1:155197843-155197893	NH-A	brain:	n/a
24	chr1:155195300-155195350	MCF-7	breast:	n/a
25	chr1:155197753-155197803	PANC-1	pancreas:	n/a
26	chr1:155197753-155197803	HRE	kidney:	n/a
27	chr1:155197511-155197561	NHBE	bronchial:	n/a
28	chr1:155197753-155197803	U87	brain:	n/a
29	chr1:155197564-155197614	HNPCEpiC	eye:	n/a
30	chr1:155197502-155197552	HNPCEpiC	eye:	n/a
31	chr1:155197843-155197893	PANC-1	pancreas:	n/a
32	chr1:155197564-155197614	NHBE	bronchial:	n/a
33	chr1:155197753-155197803	BE2_C	brain:	n/a
34	chr1:155195300-155195350	AG09309	skin:	n/a
35	chr1:155197279-155197329	SAEC	small airway:	n/a
36	chr1:155197279-155197329	H1-hESC	embryonic stem cell:	embryo
37	chr1:155197279-155197329	ECC-1	luminal epithelium:	n/a
38	chr1:155197692-155197742	PrEC	prostate:	n/a
39	chr1:155197843-155197893	HEK293	kidney:	embryo
40	chr1:155197692-155197742	NHBE	bronchial:	n/a
41	chr1:155197511-155197561	HMEC	breast:	n/a
42	chr1:155197502-155197552	HRCEpiC	kidney:	n/a
43	chr1:155197692-155197742	HRE	kidney:	n/a
44	chr1:155197173-155197223	HCT-116	colon:	n/a
45	chr1:155197564-155197614	HMEC	breast:	n/a
46	chr1:155197279-155197329	HRE	kidney:	n/a
47	chr1:155197753-155197803	SK-N-SH_RA	brain:	n/a
48	chr1:155197152-155197202	HEEpiC	esophagus:	n/a
49	chr1:155197279-155197329	GM12892	blood:	n/a
50	chr1:155197384-155197434	HL-60	blood:	n/a

(count:101 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:155162384..155165288-chr1:155195792..155197762,4	MCF-7	breast:
2	chr1:155169616..155173195-chr1:155194780..155198735,4	MCF-7	breast:
3	chr1:155197037..155198006-chr19:18392015..18392606,2	Hela-S3	cervix:
4	chr1:155196887..155197681-chr11:126173810..126174418,2	Hela-S3	cervix:
5	chr1:155098847..155100942-chr1:155197257..155198807,2	K562	blood:
6	chr1:155196517..155197108-chr12:46384125..46384821,2	Hela-S3	cervix:
7	chr1:155196898..155197468-chr17:62502350..62503311,2	Hela-S3	cervix:
8	chr1:155196826..155197379-chr1:155293682..155294339,2	NB4	blood:
9	chr1:155196808..155197366-chr3:49448953..49449687,2	Hela-S3	cervix:
10	chr1:155196896..155197597-chr6:27860436..27861086,3	Hela-S3	cervix:
11	chr1:155196819..155197743-chr6:10414963..10415769,2	Hela-S3	cervix:
12	chr1:155196805..155197397-chr1:244998371..244999084,2	Hela-S3	cervix:
13	chr1:155195750..155198407-chr1:155276763..155279696,2	K562	blood:
14	chr1:155193544..155197336-chr1:155293049..155296583,5	MCF-7	breast:
15	chr1:155194687..155197665-chr1:155223228..155225374,3	MCF-7	breast:
16	chr1:155162153..155164913-chr1:155193095..155194598,2	MCF-7	breast:
17	chr1:155036142..155036795-chr1:155197045..155197679,2	Hela-S3	cervix:
18	chr1:155196466..155197461-chr20:32254440..32254956,2	Hela-S3	cervix:
19	chr1:155146416..155150261-chr1:155194777..155198198,7	MCF-7	breast:
20	chr1:155192189..155193749-chr1:155195303..155196996,2	MCF-7	breast:
21	chr1:155176324..155177310-chr1:155196150..155197130,9	K562	blood:
22	chr1:155098008..155101008-chr1:155194682..155198746,4	MCF-7	breast:
23	chr1:155197041..155197714-chrX:47341942..47342834,2	Hela-S3	cervix:
24	chr1:155196897..155198047-chr10:112064528..112065330,3	NB4	blood:
25	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:
26	chr1:155174590..155181850-chr1:155192419..155201858,28	K562	blood:
27	chr1:155197117..155197977-chr1:155214252..155214763,4	MCF-7	breast:
28	chr1:94312249..94313217-chr1:155197097..155198051,2	Hela-S3	cervix:
29	chr1:155196679..155197559-chr2:20850313..20851127,2	Hela-S3	cervix:
30	chr1:155054721..155059011-chr1:155196588..155199418,3	K562	blood:
31	chr1:155190873..155193241-chr1:155231143..155233279,2	MCF-7	breast:
32	chr1:155195512..155198962-chr1:155200125..155202735,3	MCF-7	breast:
33	chr1:155196821..155197823-chr1:155213854..155215193,5	NB4	blood:
34	chr1:155196524..155199471-chr1:155205933..155208728,2	MCF-7	breast:
35	chr1:155193188..155195403-chr1:155211959..155214156,2	K562	blood:
36	chr1:155196402..155197362-chr16:89557375..89557938,2	Hela-S3	cervix:
37	chr1:155196797..155197673-chr7:99698835..99699797,2	Hela-S3	cervix:
38	chr1:155106515..155109128-chr1:155196131..155198130,2	K562	blood:
39	chr1:155160177..155166575-chr1:155191666..155199927,14	MCF-7	breast:
40	chr1:155148823..155149771-chr1:155196116..155196635,2	K562	blood:
41	chr1:117602404..117603075-chr1:155196850..155197424,2	Hela-S3	cervix:
42	chr1:155176293..155177732-chr1:155196164..155197059,7	MCF-7	breast:
43	chr1:155189654..155191436-chr1:155193964..155195496,2	K562	blood:
44	chr1:155196978..155198560-chr1:155209319..155211586,2	K562	blood:
45	chr1:155186661..155189522-chr1:155194169..155197986,6	K562	blood:
46	chr1:155197055..155197697-chr9:131790029..131790590,2	Hela-S3	cervix:
47	chr1:155165613..155168147-chr1:155195516..155197930,3	K562	blood:
48	chr1:155192655..155194574-chr1:155230487..155232931,2	MCF-7	breast:
49	chr1:155196583..155198165-chr11:66405632..66407790,2	MCF-7	breast:
50	chr1:155197215..155198001-chr17:7122908..7123728,2	Hela-S3	cervix:

No data

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

Extended variants
information (count: 206 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189209527	chr1:155193251-155193252	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs568006081	chr1:155193264-155193265	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs181575584	chr1:155193302-155193303	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs185890241	chr1:155193303-155193304	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs538517370	chr1:155193402-155193403	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs540855928	chr1:155193433-155193434	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs564512189	chr1:155193492-155193493	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs188512947	chr1:155193524-155193525	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs564436049	chr1:155193525-155193526	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs497829	chr1:155193532-155193533	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs143478056	chr1:155193535-155193536	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs372783741	chr1:155193552-155193553	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs180915506	chr1:155193590-155193591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs563495406	chr1:155193600-155193601	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs185970704	chr1:155193614-155193615	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs150969027	chr1:155193645-155193646	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs527379920	chr1:155193693-155193694	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs552260802	chr1:155193699-155193700	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs140830042	chr1:155193726-155193727	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs570443865	chr1:155193780-155193781	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs537414451	chr1:155193800-155193801	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs556447679	chr1:155193808-155193809	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs568246853	chr1:155193823-155193824	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs144808474	chr1:155193831-155193832	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs529349666	chr1:155193832-155193833	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs368950640	chr1:155193863-155193864	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs553544508	chr1:155193887-155193888	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs571865078	chr1:155193897-155193898	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs545905697	chr1:155193956-155193957	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs78973538	chr1:155194015-155194016	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs576407894	chr1:155194076-155194077	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs543431603	chr1:155194098-155194099	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs562440369	chr1:155194104-155194105	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs190694360	chr1:155194120-155194121	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs565825708	chr1:155194141-155194142	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs200443581	chr1:155194142-155194143	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs377568346	chr1:155194143-155194144	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs199953803	chr1:155194145-155194146	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs374042798	chr1:155194162-155194163	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs541692734	chr1:155194163-155194164	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs574481049	chr1:155194165-155194166	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs12028078	chr1:155194229-155194230	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs184173871	chr1:155194241-155194242	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs543568743	chr1:155194263-155194264	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs552270247	chr1:155194316-155194317	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs570430755	chr1:155194342-155194343	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs375061186	chr1:155194343-155194344	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs531368657	chr1:155194360-155194361	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs549500280	chr1:155194392-155194393	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs186211273	chr1:155194393-155194394	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	13 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:814 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155179600-155195400	Weak transcription	Aorta	Aorta
2	chr1:155179600-155195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
4	chr1:155179600-155196600	Weak transcription	Gastric	stomach
5	chr1:155179600-155196600	Weak transcription	Small Intestine	intestine
6	chr1:155179800-155193800	Weak transcription	HSMMtube	muscle
7	chr1:155180000-155194000	Weak transcription	HUVEC	blood vessel
8	chr1:155180000-155195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:155180200-155194000	Weak transcription	HSMM	muscle
10	chr1:155180600-155195600	Weak transcription	HepG2	liver
11	chr1:155182200-155195800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:155182200-155196400	Weak transcription	Esophagus	oesophagus
13	chr1:155182200-155196600	Weak transcription	Lung	lung
14	chr1:155182600-155196200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:155182800-155194800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:155182800-155194800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:155182800-155196400	Weak transcription	Left Ventricle	heart
18	chr1:155186000-155195200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:155186800-155193600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:155186800-155193600	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:155186800-155193600	Weak transcription	Thymus	Thymus
22	chr1:155187800-155196000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:155188000-155193800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:155188600-155196600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:155189200-155196000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:155189200-155196200	Enhancers	Primary B cells from cord blood	blood
27	chr1:155189400-155193600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:155189400-155193600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:155189400-155194000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:155189400-155194000	Weak transcription	NH-A	brain
31	chr1:155189400-155195400	Weak transcription	Liver	Liver
32	chr1:155189400-155195400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:155189400-155195800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:155189400-155196000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:155189400-155196000	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:155189400-155196000	Weak transcription	Fetal Lung	lung
37	chr1:155189400-155196200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:155189600-155194000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:155189600-155194000	Weak transcription	Osteobl	bone
40	chr1:155189600-155194400	Weak transcription	HMEC	breast
41	chr1:155189600-155194800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:155189600-155195400	Weak transcription	Fetal Brain Male	brain
43	chr1:155189600-155195600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:155189600-155195600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:155189600-155195600	Weak transcription	Brain Germinal Matrix	brain
46	chr1:155189600-155196000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr1:155189600-155196200	Weak transcription	Brain Angular Gyrus	brain
48	chr1:155189600-155196200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:155189800-155193600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:155189800-155193600	Weak transcription	NHEK	skin

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