Variant report

Variant	nsv888831
Chromosome Location	chr7:102082286-102274889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7558)
CpG islands
(count:3057)
Chromatin interactive
region (count:66)
LncRNA
region (count:1)
Mature miRNA
region (count: 2)
miRNA target
sites (count:2)

(count:7558 , 50 per page) page: 1 2 3 4 5 6 7 ... 152

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:102212897-102213097	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:102105026-102105477	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:102082078-102082452	K562	blood:	n/a	n/a
4	ARID3A	chr7:102107670-102107707	HepG2	liver:	n/a	n/a
5	ATF2	chr7:102153014-102153393	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr7:102085290-102085937	GM12878	blood:	n/a	n/a
7	ATF2	chr7:102085426-102085824	GM12878	blood:	n/a	n/a
8	ATF2	chr7:102081889-102082681	GM12878	blood:	n/a	n/a
9	ATF2	chr7:102105214-102105642	GM12878	blood:	n/a	n/a
10	ATF2	chr7:102081917-102082517	GM12878	blood:	n/a	n/a
11	ATF3	chr7:102105079-102105666	K562	blood:	n/a	chr7:102105134-102105143
12	ATF3	chr7:102081825-102082366	K562	blood:	n/a	n/a
13	ATF3	chr7:102105121-102105483	H1-hESC	embryonic stem cell:	n/a	chr7:102105134-102105143
14	ATF3	chr7:102213014-102213188	K562	blood:	n/a	n/a
15	ATF3	chr7:102213014-102213141	GM12878	blood:	n/a	n/a
16	ATF3	chr7:102105052-102105541	A549	lung:	n/a	chr7:102105134-102105143
17	ATF3	chr7:102105156-102105479	HepG2	liver:	n/a	n/a
18	BACH1	chr7:102082122-102082322	K562	blood:	n/a	n/a
19	BACH1	chr7:102105195-102105583	K562	blood:	n/a	n/a
20	BACH1	chr7:102213021-102213172	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr7:102105152-102105627	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr7:102251367-102251812	GM12878	blood:	n/a	n/a
23	BATF	chr7:102155784-102156059	GM12878	blood:	n/a	n/a
24	BATF	chr7:102257362-102257620	GM12878	blood:	n/a	n/a
25	BATF	chr7:102167226-102167423	GM12878	blood:	n/a	n/a
26	BATF	chr7:102134745-102135058	GM12878	blood:	n/a	n/a
27	BATF	chr7:102234392-102234834	GM12878	blood:	n/a	n/a
28	BATF	chr7:102148082-102148394	GM12878	blood:	n/a	n/a
29	BATF	chr7:102106969-102107235	GM12878	blood:	n/a	chr7:102107141-102107152
30	BATF	chr7:102211064-102211322	GM12878	blood:	n/a	n/a
31	BATF	chr7:102207398-102207660	GM12878	blood:	n/a	n/a
32	BATF	chr7:102212695-102213163	GM12878	blood:	n/a	n/a
33	BATF	chr7:102192870-102193124	GM12878	blood:	n/a	n/a
34	BATF	chr7:102185674-102186087	GM12878	blood:	n/a	n/a
35	BATF	chr7:102212379-102213628	GM12878	blood:	n/a	n/a
36	BATF	chr7:102117804-102118098	GM12878	blood:	n/a	n/a
37	BATF	chr7:102153892-102154083	GM12878	blood:	n/a	n/a
38	BATF	chr7:102247244-102247556	GM12878	blood:	n/a	n/a
39	BATF	chr7:102256202-102256653	GM12878	blood:	n/a	n/a
40	BATF	chr7:102266316-102266513	GM12878	blood:	n/a	n/a
41	BATF	chr7:102214079-102214404	GM12878	blood:	n/a	n/a
42	BATF	chr7:102135223-102135665	GM12878	blood:	n/a	n/a
43	BATF	chr7:102155139-102156246	GM12878	blood:	n/a	n/a
44	BATF	chr7:102254253-102254722	GM12878	blood:	n/a	n/a
45	BATF	chr7:102205933-102206440	GM12878	blood:	n/a	n/a
46	BATF	chr7:102152206-102152651	GM12878	blood:	n/a	n/a
47	BATF	chr7:102157223-102157674	GM12878	blood:	n/a	n/a
48	BATF	chr7:102185510-102186196	GM12878	blood:	n/a	n/a
49	BATF	chr7:102254763-102255038	GM12878	blood:	n/a	n/a
50	BATF	chr7:102082123-102082353	GM12878	blood:	n/a	n/a

(count:3057 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:102119710-102119760	LNCaP	prostate:	n/a
2	chr7:102109247-102109297	HRPEpiC	eye:	n/a
3	chr7:102100221-102100271	PANC-1	pancreas:	n/a
4	chr7:102158209-102158259	Caco-2	colon:	n/a
5	chr7:102119453-102119503	AG04449	skin:	fetal
6	chr7:102113508-102113558	NB4	blood:	n/a
7	chr7:102118300-102118350	MCF-7	breast:	n/a
8	chr7:102119710-102119760	LNCaP	prostate:	n/a
9	chr7:102109247-102109297	HRPEpiC	eye:	n/a
10	chr7:102100221-102100271	PANC-1	pancreas:	n/a
11	chr7:102158209-102158259	Caco-2	colon:	n/a
12	chr7:102119453-102119503	AG04449	skin:	fetal
13	chr7:102113508-102113558	NB4	blood:	n/a
14	chr7:102118300-102118350	MCF-7	breast:	n/a
15	chr7:102158209-102158259	HCM	heart:	n/a
16	chr7:102087552-102087602	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:102136524-102136574	HCM	heart:	n/a
18	chr7:102096322-102096372	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:102259241-102259291	ovcar-3	ovarian:	n/a
20	chr7:102196182-102196232	HCPEpiC	choroid plexus:	n/a
21	chr7:102104916-102104966	HRCEpiC	kidney:	n/a
22	chr7:102102804-102102854	ProgFib	skin:	n/a
23	chr7:102105195-102105245	SK-N-MC	brain:	n/a
24	chr7:102095364-102095414	HRCEpiC	kidney:	n/a
25	chr7:102100221-102100271	GM06990	blood:	n/a
26	chr7:102104297-102104347	SK-N-SH_RA	brain:	n/a
27	chr7:102151231-102151281	NH-A	brain:	n/a
28	chr7:102105195-102105245	NH-A	brain:	n/a
29	chr7:102134668-102134718	GM12892	blood:	n/a
30	chr7:102105124-102105174	HPAEpiC	pulmonary alveolar:	n/a
31	chr7:102158209-102158259	NH-A	brain:	n/a
32	chr7:102134668-102134718	AG09319	gingival:	n/a
33	chr7:102109247-102109297	BE2_C	brain:	n/a
34	chr7:102109446-102109496	NHDF-neo	bronchial:	n/a
35	chr7:102109446-102109496	GM19239	blood:	n/a
36	chr7:102104297-102104347	Jurkat	blood:	n/a
37	chr7:102087663-102087713	HCT-116	colon:	n/a
38	chr7:102107737-102107787	NHDF-neo	bronchial:	n/a
39	chr7:102098383-102098433	PrEC	prostate:	n/a
40	chr7:102104916-102104966	HEK293	kidney:	embryo
41	chr7:102119453-102119503	GM12878	blood:	n/a
42	chr7:102113759-102113809	HRE	kidney:	n/a
43	chr7:102104807-102104857	GM12878	blood:	n/a
44	chr7:102246378-102246428	HCPEpiC	choroid plexus:	n/a
45	chr7:102098214-102098264	HCPEpiC	choroid plexus:	n/a
46	chr7:102096976-102097026	MCF-7	breast:	n/a
47	chr7:102136524-102136574	HIPEpiC	eye:	n/a
48	chr7:102113508-102113558	GM12892	blood:	n/a
49	chr7:102136524-102136574	NHDF-neo	bronchial:	n/a
50	chr7:102100957-102101007	GM06990	blood:	n/a

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:102073044..102075691-chr7:102080784..102083649,2	K562	blood:
2	chr7:102085518..102087165-chr7:102088201..102092179,3	K562	blood:
3	chr7:102095134..102098505-chr7:102103151..102109325,7	K562	blood:
4	chr7:102080981..102083598-chr7:102093861..102096149,2	K562	blood:
5	chr7:102073010..102075426-chr7:102094400..102095987,2	MCF-7	breast:
6	chr7:101935058..101937626-chr7:102103527..102105838,2	MCF-7	breast:
7	chr7:102081053..102083891-chr7:102093454..102096463,3	K562	blood:
8	chr7:102091019..102095913-chr7:102104103..102106811,4	MCF-7	breast:
9	chr7:102079604..102082323-chr7:102098153..102099858,2	K562	blood:
10	chr7:102080981..102083598-chr7:102093861..102096149,2	K562	blood:
11	chr7:102053201..102055205-chr7:102088034..102089879,2	K562	blood:
12	chr7:102088198..102090049-chr7:102090279..102092593,3	K562	blood:
13	chr6:82462024..82463020-chr7:102105257..102105953,2	NB4	blood:
14	chr7:102035604..102038403-chr7:102105375..102107150,2	K562	blood:
15	chr7:102053096..102053747-chr7:102091700..102092244,2	K562	blood:
16	chr7:102079057..102082389-chr7:102085865..102088701,3	K562	blood:
17	chr7:102095105..102097142-chr7:102112791..102114354,2	K562	blood:
18	chr7:102092159..102093750-chr7:102104302..102106947,2	K562	blood:
19	chr7:102080629..102083879-chr7:102103708..102106434,4	K562	blood:
20	chr7:102077007..102082389-chr7:102085865..102088715,6	K562	blood:
21	chr7:102073875..102075484-chr7:102103725..102106348,2	MCF-7	breast:
22	chr7:102073749..102075617-chr7:102090961..102093380,2	K562	blood:
23	chr7:5571535..5572189-chr7:102091352..102092031,2	Hela-S3	cervix:
24	chr7:102089632..102093440-chr7:102095527..102097996,3	MCF-7	breast:
25	chr7:102074336..102076927-chr7:102105688..102108273,2	K562	blood:
26	chr7:102073120..102075874-chr7:102086998..102091196,4	MCF-7	breast:
27	chr7:102089632..102093440-chr7:102095527..102097996,3	MCF-7	breast:
28	chr7:102071879..102076945-chr7:102079326..102082445,6	MCF-7	breast:
29	chr7:102085730..102086410-chr7:102110585..102111557,2	K562	blood:
30	chr7:102092377..102094022-chr7:102102863..102104706,2	K562	blood:
31	chr7:102054913..102058097-chr7:102085637..102088433,3	MCF-7	breast:
32	chr7:102081053..102083891-chr7:102093454..102096463,3	K562	blood:
33	chr7:102035707..102037927-chr7:102085118..102087010,2	MCF-7	breast:
34	chr7:102085208..102087796-chr7:102094817..102096828,2	K562	blood:
35	chr16:90039038..90039558-chr7:102105289..102105810,2	Hela-S3	cervix:
36	chr7:102047341..102050433-chr7:102088256..102090281,3	MCF-7	breast:
37	chr7:102085208..102087796-chr7:102094817..102096828,2	K562	blood:
38	chr7:102036206..102039256-chr7:102090414..102093490,3	MCF-7	breast:
39	chr7:102085730..102086410-chr7:102110585..102111557,2	K562	blood:
40	chr7:102074288..102075907-chr7:102082499..102084091,2	MCF-7	breast:
41	chr7:101922758..101923352-chr7:102090378..102091025,2	MCF-7	breast:
42	chr7:102110592..102113197-chr7:102117853..102119354,2	MCF-7	breast:
43	chr7:102079604..102082323-chr7:102098153..102099858,2	K562	blood:
44	chr7:102079057..102082389-chr7:102085865..102088701,3	K562	blood:
45	chr7:102095105..102097142-chr7:102112791..102114354,2	K562	blood:
46	chr10:12391000..12393664-chr7:102102754..102105293,2	MCF-7	breast:
47	chr7:102096270..102098685-chr7:102100293..102102957,2	K562	blood:
48	chr7:102110628..102112535-chr8:144951000..144953117,2	MCF-7	breast:
49	chr7:101929851..101931493-chr7:102106221..102107741,2	MCF-7	breast:
50	chr7:102110592..102113197-chr7:102117853..102119354,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR2J-1	chr7:102120179-102121095	NONHSAT122510

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4467	chr7:102111919-102111940	MIMAT0018994
hsa-miR-5090	chr7:102106199-102106221	MIMAT0021082

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RASA4	hsa-miR-335-5p	chr7:102128407-102128431
2	RASA4	hsa-miR-335-5p	chr7:102227581-102227605

Variant related genes	Relation type
ENSG00000270249	TF binding region
ENSG00000238997	TF binding region
RASA4B	TF binding region
ALKBH4	TF binding region
ENSG00000272949	TF binding region
MIR5090	TF binding region
SPDYE2	TF binding region
ENSG00000271745	TF binding region
RASA4	TF binding region
MIR4467	TF binding region
LRWD1	TF binding region
POLR2J3	TF binding region
POLR2J	TF binding region
ENSG00000256604	TF binding region
ENSG00000238392	TF binding region
ENSG00000270249	CpG island
ENSG00000238997	CpG island
RASA4B	CpG island
ALKBH4	CpG island
ENSG00000272949	CpG island
MIR5090	CpG island
SPDYE2	CpG island
ENSG00000271745	CpG island
RASA4	CpG island
MIR4467	CpG island
LRWD1	CpG island
POLR2J3	CpG island
POLR2J	CpG island
ENSG00000256604	CpG island
ENSG00000238392	CpG island
ENSG00000264471	chromatin interactions
ENSG00000266715	chromatin interactions
ENSG00000227184	chromatin interactions
ENSG00000264675	chromatin interactions
ENSG00000160991	chromatin interactions
ENSG00000239480	chromatin interactions
ENSG00000223959	chromatin interactions
ENSG00000160993	chromatin interactions
ENSG00000005075	chromatin interactions
ENSG00000183049	chromatin interactions
ENSG00000161036	chromatin interactions
ENSG00000112773	chromatin interactions
ENSG00000128563	chromatin interactions

Extended variants
information (count: 3450 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3450 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4342524	chr7:102082286-102082287	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75308597	chr7:102082289-102082290	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs545418610	chr7:102082308-102082309	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs186598297	chr7:102082310-102082311	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs191154888	chr7:102082371-102082372	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs149343881	chr7:102082403-102082404	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs543178545	chr7:102082412-102082413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs184079542	chr7:102082441-102082442	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs531263526	chr7:102082442-102082443	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs76162653	chr7:102082452-102082453	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs564583406	chr7:102082475-102082476	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs367873578	chr7:102082476-102082477	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs532122211	chr7:102082481-102082482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs547405215	chr7:102082542-102082543	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs372769604	chr7:102082585-102082586	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs565938913	chr7:102082589-102082590	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs189673466	chr7:102082605-102082606	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs113862678	chr7:102082609-102082610	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs181762671	chr7:102082643-102082644	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs567765696	chr7:102082679-102082680	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs538389445	chr7:102082684-102082685	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs556687298	chr7:102082698-102082699	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs111647198	chr7:102082707-102082708	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs35912288	chr7:102082713-102082714	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs113692861	chr7:102082719-102082720	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs190579392	chr7:102082725-102082726	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs554189574	chr7:102082767-102082768	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs182299353	chr7:102082811-102082812	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs542861367	chr7:102082812-102082813	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs186322503	chr7:102082875-102082876	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs189933486	chr7:102082917-102082918	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs543152039	chr7:102082933-102082934	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs564620632	chr7:102082953-102082954	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs532034463	chr7:102083003-102083004	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs547337130	chr7:102083006-102083007	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs144702961	chr7:102083007-102083008	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs10250030	chr7:102083020-102083021	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs529954741	chr7:102083036-102083037	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs555846081	chr7:102083063-102083064	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs113524773	chr7:102083081-102083082	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs116530044	chr7:102083088-102083089	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs148582810	chr7:102083089-102083090	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs142953318	chr7:102083119-102083120	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs59285798	chr7:102083129-102083130	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs374797408	chr7:102083196-102083197	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs536767842	chr7:102083228-102083229	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs6960360	chr7:102083232-102083233	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs538671688	chr7:102083251-102083252	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs541354885	chr7:102083320-102083321	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs562261466	chr7:102083364-102083365	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:2970 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102074600-102085400	Weak transcription	Gastric	stomach
2	chr7:102074600-102086800	Weak transcription	Aorta	Aorta
3	chr7:102075000-102086800	Weak transcription	Fetal Lung	lung
4	chr7:102075000-102099800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:102075000-102104000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:102075200-102085600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:102075200-102086800	Weak transcription	Liver	Liver
8	chr7:102075200-102086800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:102075200-102086800	Weak transcription	Colonic Mucosa	Colon
10	chr7:102075200-102086800	Weak transcription	Fetal Intestine Large	intestine
11	chr7:102075200-102087000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:102075200-102092000	Weak transcription	Esophagus	oesophagus
13	chr7:102075200-102095200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:102075200-102097600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:102075200-102104200	Weak transcription	Fetal Kidney	kidney
16	chr7:102075400-102087000	Weak transcription	Placenta	Placenta
17	chr7:102075400-102087000	Weak transcription	Pancreas	Pancrea
18	chr7:102075400-102087000	Weak transcription	Dnd41	blood
19	chr7:102075400-102097000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:102075600-102103400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:102075800-102103600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:102076000-102085400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:102076000-102086800	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:102076000-102097600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:102076000-102104200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:102076200-102084200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:102076400-102083200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:102076400-102083800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:102076600-102085400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:102076600-102090000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:102076600-102091200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:102076600-102091400	Strong transcription	Fetal Stomach	stomach
33	chr7:102076800-102083200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr7:102078400-102084400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:102078600-102082800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:102079000-102082800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr7:102079200-102082600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:102079200-102082600	Strong transcription	Primary T cells from cord blood	blood
39	chr7:102079200-102082800	Strong transcription	Fetal Brain Female	brain
40	chr7:102079200-102083000	Strong transcription	Brain Germinal Matrix	brain
41	chr7:102079200-102083200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:102079200-102083400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:102079400-102082600	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr7:102079400-102082800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:102079400-102084800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:102079800-102085600	Weak transcription	Ovary	ovary
47	chr7:102079800-102086800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:102080000-102086800	Weak transcription	NHLF	lung
49	chr7:102080600-102082400	Enhancers	K562	blood
50	chr7:102080600-102082600	Genic enhancers	Primary B cells from cord blood	blood

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