Variant report

Variant	nsv965196
Chromosome Location	chr3:111288442-111289914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:111289351-111289483	MCF-7	breast:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
2	CTCF	chr3:111289331-111289492	MCF-7	breast:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
3	CTCF	chr3:111289260-111289410	HCT-116	colon:	n/a	n/a
4	CTCF	chr3:111289362-111289484	MCF-7	breast:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
5	CTCF	chr3:111289340-111289490	GM12874	blood:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
6	CTCF	chr3:111289371-111289449	GM19238	blood:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
7	CTCF	chr3:111289256-111289523	H1-hESC	embryonic stem cell:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
8	CTCF	chr3:111289320-111289470	GM06990	blood:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
9	CTCF	chr3:111289336-111289490	NHEK	skin:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
10	CTCF	chr3:111289338-111289472	H1-hESC	embryonic stem cell:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
11	CTCF	chr3:111289320-111289470	HepG2	liver:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
12	CTCF	chr3:111289346-111289487	MCF-7	breast:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
13	CTCF	chr3:111289348-111289443	A549	lung:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
14	CTCF	chr3:111289368-111289459	Gliobla	brain:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
15	CTCF	chr3:111289364-111289367	Gliobla	brain:	n/a	n/a
16	CTCF	chr3:111289358-111289449	GM19239	blood:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
17	CTCF	chr3:111289260-111289410	A549	lung:	n/a	n/a
18	CTCF	chr3:111289300-111289450	HEK293	kidney:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
19	CTCF	chr3:111289354-111289444	GM19240	blood:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
20	CTCF	chr3:111289331-111289466	Hela-S3	cervix:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
21	CTCF	chr3:111289347-111289475	GM12892	blood:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
22	CTCF	chr3:111289342-111289456	MCF-7	breast:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
23	CTCF	chr3:111289371-111289462	Fibrobl	skin:	n/a	chr3:111289402-111289423 chr3:111289400-111289418
24	POLR2A	chr3:111288994-111289122	A549	lung:	n/a	n/a
25	POLR2A	chr3:111288984-111288990	A549	lung:	n/a	n/a
26	POLR2A	chr3:111289740-111289753	MCF-7	breast:	n/a	n/a
27	POLR2A	chr3:111289724-111289867	A549	lung:	n/a	n/a
28	POLR2A	chr3:111289517-111289599	ProgFib	skin:	n/a	n/a
29	POLR2A	chr3:111288594-111288692	HepG2	liver:	n/a	n/a
30	POLR2A	chr3:111289316-111289596	A549	lung:	n/a	n/a
31	POLR2A	chr3:111289613-111289614	A549	lung:	n/a	n/a
32	POLR2A	chr3:111289460-111289549	MCF-7	breast:	n/a	n/a
33	POLR2A	chr3:111288955-111288965	A549	lung:	n/a	n/a
34	POLR2A	chr3:111288848-111288854	A549	lung:	n/a	n/a
35	POLR2A	chr3:111289764-111289786	MCF-7	breast:	n/a	n/a
36	POLR2A	chr3:111288854-111288934	MCF-7	breast:	n/a	n/a
37	POLR2A	chr3:111289397-111289450	MCF-7	breast:	n/a	n/a
38	POLR2A	chr3:111289404-111289493	ProgFib	skin:	n/a	n/a
39	POLR2A	chr3:111289636-111289713	A549	lung:	n/a	n/a
40	POLR2A	chr3:111289609-111289694	ProgFib	skin:	n/a	n/a
41	RAD21	chr3:111289306-111289518	H1-hESC	embryonic stem cell:	n/a	chr3:111289401-111289420
42	RAD21	chr3:111289280-111289492	HepG2	liver:	n/a	chr3:111289401-111289420
43	RAD21	chr3:111289275-111289541	H1-hESC	embryonic stem cell:	n/a	chr3:111289401-111289420

Variant related genes	Relation type
ENSG00000240787	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2175749	chr3:111288447-111288448	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138209512	chr3:111288454-111288455	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368812353	chr3:111288494-111288495	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1299314	chr3:111288508-111288509	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149177676	chr3:111288513-111288514	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566043758	chr3:111288533-111288534	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7635078	chr3:111288539-111288540	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs143542240	chr3:111288592-111288593	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56176259	chr3:111288694-111288695	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148037933	chr3:111288721-111288722	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548936702	chr3:111288726-111288727	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376936206	chr3:111288808-111288809	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568763602	chr3:111288815-111288816	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537900514	chr3:111288821-111288822	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557926922	chr3:111288836-111288837	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569912753	chr3:111288849-111288850	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577514055	chr3:111288881-111288882	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540069666	chr3:111288891-111288892	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559202256	chr3:111288896-111288897	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192047494	chr3:111288904-111288905	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538952234	chr3:111288905-111288906	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375166807	chr3:111288906-111288907	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185347447	chr3:111288916-111288917	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562072137	chr3:111288922-111288923	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113583328	chr3:111288972-111288973	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189420281	chr3:111289009-111289010	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544293343	chr3:111289050-111289051	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192924136	chr3:111289065-111289066	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537198004	chr3:111289099-111289100	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532945291	chr3:111289165-111289166	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552489263	chr3:111289230-111289231	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546353662	chr3:111289234-111289235	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115305765	chr3:111289235-111289236	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55925045	chr3:111289246-111289247	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184345094	chr3:111289250-111289251	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142637499	chr3:111289320-111289321	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72622321	chr3:111289337-111289338	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577253166	chr3:111289372-111289373	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530664516	chr3:111289413-111289414	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374211036	chr3:111289459-111289460	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370696267	chr3:111289472-111289473	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534911801	chr3:111289488-111289489	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375076961	chr3:111289492-111289493	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552719065	chr3:111289499-111289500	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367690215	chr3:111289560-111289561	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533891344	chr3:111289561-111289562	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553482579	chr3:111289574-111289575	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574356783	chr3:111289662-111289663	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552460184	chr3:111289663-111289664	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573363620	chr3:111289667-111289668	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111269800-111289200	Weak transcription	Thymus	Thymus
2	chr3:111285000-111289600	Strong transcription	Dnd41	blood
3	chr3:111286200-111288800	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr3:111286200-111289400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:111286400-111293200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:111286800-111288600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:111287000-111289600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:111287200-111289200	Weak transcription	Primary T cells from cord blood	blood
9	chr3:111287200-111290600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr3:111287600-111290200	Weak transcription	Fetal Thymus	thymus
11	chr3:111287800-111290400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:111287800-111293000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr3:111288200-111288600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr3:111288200-111290000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:111288400-111288600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr3:111288400-111289400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:111288400-111289600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:111288400-111290200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:111288400-111296000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:111288600-111288800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr3:111288600-111289800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr3:111288600-111296600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:111288800-111289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:111288800-111291200	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr3:111289200-111291200	Strong transcription	Primary T cells from cord blood	blood
26	chr3:111289200-111291200	Strong transcription	Thymus	Thymus
27	chr3:111289400-111290000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:111289400-111291200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:111289400-111292200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr3:111289600-111290000	Genic enhancers	Dnd41	blood
31	chr3:111289600-111291000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr3:111289600-111292000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:111289800-111290800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood

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