Variant report

Variant	nsv482110
Chromosome Location	chr7:100487616-100493541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:981)
CpG islands
(count:1651)
Chromatin interactive
region (count:65)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:981 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:100487903-100488141	K562	blood:	n/a	n/a
2	ARID3A	chr7:100487525-100487637	K562	blood:	n/a	n/a
3	ATF2	chr7:100488455-100488811	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr7:100487396-100487810	GM12878	blood:	n/a	n/a
5	ATF3	chr7:100487408-100488008	A549	lung:	n/a	n/a
6	BACH1	chr7:100492608-100492850	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:100487516-100488074	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr7:100491837-100492206	K562	blood:	n/a	n/a
9	BACH1	chr7:100493104-100493154	K562	blood:	n/a	n/a
10	BACH1	chr7:100488388-100488733	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr7:100493122-100493270	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr7:100486212-100487826	A549	lung:	n/a	chr7:100486978-100486991 chr7:100486984-100486997 chr7:100487069-100487082 chr7:100487132-100487141
13	BHLHE40	chr7:100487514-100487675	GM12878	blood:	n/a	n/a
14	BHLHE40	chr7:100488530-100488588	K562	blood:	n/a	n/a
15	BHLHE40	chr7:100487490-100488202	K562	blood:	n/a	n/a
16	BHLHE40	chr7:100491837-100492207	K562	blood:	n/a	n/a
17	BRCA1	chr7:100491836-100492209	GM12878	blood:	n/a	n/a
18	BRCA1	chr7:100491918-100492206	HepG2	liver:	n/a	n/a
19	BRCA1	chr7:100492556-100492631	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr7:100492006-100492206	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr7:100492382-100492704	K562	blood:	n/a	n/a
22	CBX3	chr7:100493515-100494527	K562	blood:	n/a	n/a
23	CBX3	chr7:100486638-100488347	K562	blood:	n/a	n/a
24	CCNT2	chr7:100486273-100488089	K562	blood:	n/a	n/a
25	CCNT2	chr7:100492094-100495029	K562	blood:	n/a	chr7:100492742-100492751
26	CEBPB	chr7:100487248-100487636	Hela-S3	cervix:	n/a	n/a
27	CEBPD	chr7:100487403-100487708	HepG2	liver:	n/a	n/a
28	CEBPD	chr7:100486795-100487795	HepG2	liver:	n/a	n/a
29	CHD1	chr7:100487654-100488093	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr7:100492614-100492763	H1-hESC	embryonic stem cell:	n/a	chr7:100492616-100492626
31	CHD1	chr7:100487482-100488751	GM12878	blood:	n/a	n/a
32	CHD2	chr7:100487930-100488129	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr7:100492006-100492206	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr7:100488464-100488723	GM12878	blood:	n/a	n/a
35	CHD2	chr7:100487517-100488168	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr7:100487868-100488340	K562	blood:	n/a	n/a
37	CHD2	chr7:100491838-100492063	HepG2	liver:	n/a	n/a
38	CHD2	chr7:100492009-100492206	K562	blood:	n/a	n/a
39	CHD2	chr7:100491842-100492211	GM12878	blood:	n/a	n/a
40	CHD2	chr7:100487881-100488129	GM12878	blood:	n/a	n/a
41	CHD2	chr7:100488613-100488666	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr7:100486885-100487629	K562	blood:	n/a	n/a
43	CHD2	chr7:100492493-100492634	H1-hESC	embryonic stem cell:	n/a	chr7:100492616-100492626
44	CHD2	chr7:100487018-100487664	Hela-S3	cervix:	n/a	n/a
45	CREB1	chr7:100487762-100488105	A549	lung:	n/a	n/a
46	CREB1	chr7:100487381-100487750	A549	lung:	n/a	n/a
47	CTCF	chr7:100492423-100492713	LNCaP	prostate:	n/a	chr7:100492576-100492594 chr7:100492579-100492592
48	CTCF	chr7:100491980-100492130	HMEC	breast:	n/a	n/a
49	CTCF	chr7:100492500-100492650	GM12867	blood:	n/a	chr7:100492576-100492594 chr7:100492579-100492592
50	CTCF	chr7:100492793-100492866	GM19240	blood:	n/a	chr7:100492813-100492822

(count:1651 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100490570-100490620	H1-hESC	embryonic stem cell:	embryo
2	chr7:100488705-100488755	HepG2	liver:	n/a
3	chr7:100487659-100487709	HCT-116	colon:	n/a
4	chr7:100490184-100490234	LNCaP	prostate:	n/a
5	chr7:100490570-100490620	H1-hESC	embryonic stem cell:	embryo
6	chr7:100488705-100488755	HepG2	liver:	n/a
7	chr7:100487659-100487709	HCT-116	colon:	n/a
8	chr7:100490184-100490234	LNCaP	prostate:	n/a
9	chr7:100492945-100492995	HPAEpiC	pulmonary alveolar:	n/a
10	chr7:100491027-100491077	ovcar-3	ovarian:	n/a
11	chr7:100488398-100488448	HCPEpiC	choroid plexus:	n/a
12	chr7:100493365-100493415	HRE	kidney:	n/a
13	chr7:100493522-100493572	AoSMC	blood vessel:	n/a
14	chr7:100488942-100488992	CMK	blood:	n/a
15	chr7:100493365-100493415	HRPEpiC	eye:	n/a
16	chr7:100492700-100492750	HNPCEpiC	eye:	n/a
17	chr7:100488398-100488448	HCT-116	colon:	n/a
18	chr7:100490250-100490300	NH-A	brain:	n/a
19	chr7:100488527-100488577	HEEpiC	esophagus:	n/a
20	chr7:100492945-100492995	NT2-D1	testis:	n/a
21	chr7:100491027-100491077	PANC-1	pancreas:	n/a
22	chr7:100493500-100493550	NHBE	bronchial:	n/a
23	chr7:100487830-100487880	PANC-1	pancreas:	n/a
24	chr7:100493522-100493572	SK-N-SH	brain:	n/a
25	chr7:100493365-100493415	HCPEpiC	choroid plexus:	n/a
26	chr7:100492175-100492225	GM12891	blood:	n/a
27	chr7:100487572-100487622	HepG2	liver:	n/a
28	chr7:100489982-100490032	NT2-D1	testis:	n/a
29	chr7:100492700-100492750	Jurkat	blood:	n/a
30	chr7:100490250-100490300	K562	blood:	n/a
31	chr7:100488942-100488992	HCF	heart:	n/a
32	chr7:100487572-100487622	HNPCEpiC	eye:	n/a
33	chr7:100492175-100492225	LNCaP	prostate:	n/a
34	chr7:100490934-100490984	SKMC	muscle:	n/a
35	chr7:100490570-100490620	PrEC	prostate:	n/a
36	chr7:100490934-100490984	NT2-D1	testis:	n/a
37	chr7:100490934-100490984	GM12891	blood:	n/a
38	chr7:100487800-100487850	SK-N-SH_RA	brain:	n/a
39	chr7:100490570-100490620	HUVEC	blood vessel:	n/a
40	chr7:100493522-100493572	HUVEC	blood vessel:	n/a
41	chr7:100493522-100493572	PFSK-1	brain:	n/a
42	chr7:100490934-100490984	SK-N-SH_RA	brain:	n/a
43	chr7:100492376-100492426	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:100487659-100487709	ProgFib	skin:	n/a
45	chr7:100490061-100490111	ProgFib	skin:	n/a
46	chr7:100491337-100491387	SK-N-SH_RA	brain:	n/a
47	chr7:100492945-100492995	HCPEpiC	choroid plexus:	n/a
48	chr7:100489022-100489072	CMK	blood:	n/a
49	chr7:100488942-100488992	GM12891	blood:	n/a
50	chr7:100487572-100487622	HIPEpiC	eye:	n/a

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:100487624..100489181-chr7:100719587..100722224,2	K562	blood:
2	chr7:100182211..100184849-chr7:100486903..100489190,3	MCF-7	breast:
3	chr7:100488064..100490956-chr7:100899362..100902023,2	MCF-7	breast:
4	chr7:100486439..100489230-chr7:100726552..100729974,6	MCF-7	breast:
5	chr7:100491373..100494455-chr7:100609680..100612292,3	MCF-7	breast:
6	chr3:125093829..125095736-chr7:100486331..100489025,2	MCF-7	breast:
7	chr7:100299982..100306646-chr7:100485585..100490991,8	MCF-7	breast:
8	chr7:100423550..100425060-chr7:100485976..100488045,2	K562	blood:
9	chr7:100486144..100489424-chr7:100805467..100808505,5	MCF-7	breast:
10	chr7:100491458..100494589-chr7:100859109..100862606,4	MCF-7	breast:
11	chr7:100491420..100497264-chr7:100607951..100612175,9	K562	blood:
12	chr7:100208465..100211590-chr7:100485559..100488810,4	MCF-7	breast:
13	chr13:31736451..31736972-chr7:100487069..100487988,2	HCT-116	colon:
14	chr7:100491227..100493354-chr7:100886184..100889152,2	K562	blood:
15	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:
16	chr7:100462853..100463576-chr7:100487534..100488075,2	MCF-7	breast:
17	chr7:100418397..100419909-chr7:100486584..100488563,2	MCF-7	breast:
18	chr7:100448922..100451627-chr7:100483976..100487908,4	K562	blood:
19	chr7:100433653..100435265-chr7:100487454..100490757,3	MCF-7	breast:
20	chr7:100487290..100489665-chr7:100607825..100610804,2	K562	blood:
21	chr7:100486083..100488238-chr7:100659648..100662388,2	MCF-7	breast:
22	chr7:100024866..100028113-chr7:100485356..100489963,5	MCF-7	breast:
23	chr7:63773941..63774744-chr7:100487108..100487984,2	NB4	blood:
24	chr7:100485984..100488072-chr7:100806477..100808899,2	K562	blood:
25	chr7:100492814..100493314-chr7:100738077..100738742,2	K562	blood:
26	chr7:100491924..100495059-chr7:100886100..100889819,5	MCF-7	breast:
27	chr7:100315107..100317886-chr7:100488286..100489805,2	MCF-7	breast:
28	chr7:100486155..100488924-chr7:100732323..100735470,4	MCF-7	breast:
29	chr7:100492733..100496183-chr7:100699112..100703676,5	MCF-7	breast:
30	chr7:100492615..100493493-chr7:100609306..100609962,2	MCF-7	breast:
31	chr7:100486587..100489014-chr7:100735698..100737931,3	MCF-7	breast:
32	chr7:100490569..100492448-chr7:100550621..100553306,2	MCF-7	breast:
33	chr7:100486764..100489719-chr7:100736778..100738797,2	K562	blood:
34	chr7:100492126..100493072-chr7:100720609..100721480,6	MCF-7	breast:
35	chr7:100487416..100489348-chr7:101516491..101519278,2	MCF-7	breast:
36	chr7:100486719..100488706-chr7:100796879..100799403,2	MCF-7	breast:
37	chr7:100491799..100497264-chr7:100607837..100612175,9	K562	blood:
38	chr7:100269920..100272546-chr7:100486381..100488020,2	MCF-7	breast:
39	chr7:100493490..100497118-chr7:100701265..100703603,3	K562	blood:
40	chr7:100424015..100426484-chr7:100488647..100490800,2	K562	blood:
41	chr7:100201842..100204261-chr7:100485824..100488204,2	MCF-7	breast:
42	chr7:100485751..100487913-chr7:100611034..100613104,2	K562	blood:
43	chr7:100484134..100489082-chr7:100804986..100809404,8	MCF-7	breast:
44	chr7:100303615..100305529-chr7:100486314..100489038,2	K562	blood:
45	chr10:27149423..27150047-chr7:100487107..100487691,2	Hela-S3	cervix:
46	chr7:100472344..100473067-chr7:100487033..100488215,3	MCF-7	breast:
47	chr7:100421851..100424595-chr7:100488128..100489967,2	MCF-7	breast:
48	chr7:100486731..100489034-chr7:100894336..100897176,2	MCF-7	breast:
49	chr7:100492344..100495062-chr7:100726871..100729209,3	MCF-7	breast:
50	chr7:100269556..100272634-chr7:100485447..100488529,3	K562	blood:

No data

Variant related genes	Relation type
ACHE	TF binding region
UFSP1	TF binding region
ACHE	CpG island
UFSP1	CpG island
ENSG00000128564	chromatin interactions
ENSG00000136754	chromatin interactions
ENSG00000225946	chromatin interactions
ENSG00000172354	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000112624	chromatin interactions
ENSG00000087087	chromatin interactions
ENSG00000120694	chromatin interactions
ENSG00000146828	chromatin interactions
ENSG00000106330	chromatin interactions
ENSG00000263672	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000106333	chromatin interactions
ENSG00000260336	chromatin interactions
ENSG00000106367	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000106397	chromatin interactions
ENSG00000163848	chromatin interactions
ENSG00000106336	chromatin interactions
ENSG00000234444	chromatin interactions
ENSG00000227053	chromatin interactions
ENSG00000228273	chromatin interactions
ENSG00000077454	chromatin interactions
ENSG00000222636	chromatin interactions
ENSG00000106404	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000106400	chromatin interactions
ENSG00000214253	chromatin interactions
ENSG00000169871	chromatin interactions
ENSG00000205277	chromatin interactions
ENSG00000236305	chromatin interactions
ENSG00000196411	chromatin interactions
ENSG00000169894	chromatin interactions

Extended variants
information (count: 289 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548969597	chr7:100487638-100487639	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
2	rs568447618	chr7:100487705-100487706	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
3	rs17228616	chr7:100487721-100487722	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370031049	chr7:100487728-100487729	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
5	rs17228609	chr7:100487748-100487749	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs201836239	chr7:100487830-100487831	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
7	rs144293839	chr7:100487834-100487835	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
8	rs374208818	chr7:100487851-100487852	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
9	rs147386700	chr7:100487889-100487890	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
10	rs370551781	chr7:100487949-100487950	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
11	rs375151616	chr7:100488040-100488041	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
12	rs113616334	chr7:100488044-100488045	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
13	rs546680704	chr7:100488129-100488130	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
14	rs568161125	chr7:100488169-100488170	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
15	rs17883268	chr7:100488170-100488171	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs80156244	chr7:100488180-100488181	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
17	rs539523870	chr7:100488245-100488246	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
18	rs554881705	chr7:100488262-100488263	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
19	rs556503915	chr7:100488284-100488285	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
20	rs190663480	chr7:100488297-100488298	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
21	rs558736410	chr7:100488342-100488343	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
22	rs540772563	chr7:100488354-100488355	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
23	rs577019712	chr7:100488360-100488361	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
24	rs541165973	chr7:100488363-100488364	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
25	rs553083565	chr7:100488396-100488397	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
26	rs574521787	chr7:100488399-100488400	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
27	rs17228602	chr7:100488407-100488408	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564034472	chr7:100488470-100488471	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
29	rs17235010	chr7:100488530-100488531	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
30	rs531065307	chr7:100488547-100488548	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
31	rs546387821	chr7:100488548-100488549	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
32	rs374827711	chr7:100488553-100488554	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
33	rs564380667	chr7:100488574-100488575	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
34	rs200431197	chr7:100488600-100488601	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
35	rs199826303	chr7:100488612-100488613	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
36	rs17886728	chr7:100488638-100488639	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
37	rs1799806	chr7:100488658-100488659	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550669871	chr7:100488731-100488732	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
39	rs569933984	chr7:100488735-100488736	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
40	rs536905617	chr7:100488768-100488769	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
41	rs115089874	chr7:100488778-100488779	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
42	rs201344558	chr7:100488906-100488907	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
43	rs373801320	chr7:100488932-100488933	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
44	rs368510156	chr7:100488984-100488985	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs372235144	chr7:100488987-100488988	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs375100557	chr7:100488988-100488989	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs574013626	chr7:100488991-100488992	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs112259347	chr7:100489027-100489028	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs552999482	chr7:100489090-100489091	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs139696379	chr7:100489107-100489108	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:756 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100484800-100488800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr7:100486000-100488400	Active TSS	Psoas Muscle	Psoas
3	chr7:100486200-100489000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:100486400-100488400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:100486400-100489200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:100486400-100489400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:100486600-100487800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr7:100486600-100487800	Active TSS	Fetal Brain Female	brain
9	chr7:100486600-100487800	Active TSS	GM12878-XiMat	blood
10	chr7:100486600-100487800	Active TSS	HSMMtube	muscle
11	chr7:100486600-100488000	Active TSS	NHEK	skin
12	chr7:100486600-100488600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr7:100486600-100488600	Active TSS	Placenta Amnion	Placenta Amnion
14	chr7:100486600-100489000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:100486600-100489000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr7:100486600-100489000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr7:100486600-100489000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:100486600-100489000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:100486600-100489000	Active TSS	Rectal Smooth Muscle	rectum
20	chr7:100486600-100489200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:100486600-100489200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr7:100486600-100489200	Active TSS	Fetal Kidney	kidney
23	chr7:100486600-100489400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr7:100486600-100489400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr7:100486600-100489400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:100486600-100489400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr7:100486600-100490600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:100486800-100487800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:100486800-100487800	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr7:100486800-100487800	Active TSS	Muscle Satellite Cultured Cells	--
31	chr7:100486800-100487800	Active TSS	Brain Angular Gyrus	brain
32	chr7:100486800-100487800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:100486800-100487800	Active TSS	Duodenum Mucosa	Duodenum
34	chr7:100486800-100487800	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr7:100486800-100487800	Active TSS	HSMM	muscle
36	chr7:100486800-100488000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:100486800-100488000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:100486800-100488000	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr7:100486800-100488000	Active TSS	Brain Cingulate Gyrus	brain
40	chr7:100486800-100488000	Active TSS	Esophagus	oesophagus
41	chr7:100486800-100488000	Active TSS	Small Intestine	intestine
42	chr7:100486800-100488200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:100486800-100488200	Active TSS	Aorta	Aorta
44	chr7:100486800-100488200	Active TSS	Left Ventricle	heart
45	chr7:100486800-100488200	Active TSS	NHDF-Ad	bronchial
46	chr7:100486800-100488400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:100486800-100488400	Active TSS	Brain Substantia Nigra	brain
48	chr7:100486800-100488400	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr7:100486800-100488800	Active TSS	Ovary	ovary
50	chr7:100486800-100489000	Active TSS	Colon Smooth Muscle	Colon

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