Variant report

Variant	nsv433354
Chromosome Location	chr3:111281864-111284561
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	CEBPB	chr3:111282595-111282844	Hela-S3	cervix:	n/a	n/a
2	E2F4	chr3:111283272-111283320	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:111283377-111283477	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CD96	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1398748	chr3:111281864-111281865	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7615882	chr3:111281886-111281887	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577754073	chr3:111281935-111281936	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149230428	chr3:111281952-111281953	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564090517	chr3:111281953-111281954	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577622134	chr3:111281982-111281983	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540322663	chr3:111282012-111282013	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560262422	chr3:111282022-111282023	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7637867	chr3:111282031-111282032	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549196825	chr3:111282034-111282035	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562557447	chr3:111282037-111282038	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73228135	chr3:111282059-111282060	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551390558	chr3:111282065-111282066	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571223358	chr3:111282143-111282144	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371071859	chr3:111282155-111282156	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34486089	chr3:111282227-111282228	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146328134	chr3:111282282-111282283	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547492087	chr3:111282359-111282360	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567402250	chr3:111282405-111282406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553207608	chr3:111282413-111282414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139075724	chr3:111282419-111282420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555897122	chr3:111282429-111282430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138700914	chr3:111282430-111282431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371752962	chr3:111282438-111282439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35709352	chr3:111282444-111282445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575749933	chr3:111282516-111282517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374361776	chr3:111282518-111282519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11928649	chr3:111282564-111282565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558072774	chr3:111282626-111282627	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs372242765	chr3:111282659-111282660	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs577613783	chr3:111282686-111282687	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs188638999	chr3:111282688-111282689	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542924040	chr3:111282704-111282705	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs35069797	chr3:111282728-111282729	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs62275476	chr3:111282743-111282744	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192547612	chr3:111282744-111282745	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs62275477	chr3:111282829-111282830	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562657466	chr3:111282866-111282867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76690364	chr3:111282870-111282871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184354217	chr3:111282926-111282927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565205642	chr3:111282929-111282930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143077431	chr3:111282930-111282931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs80019801	chr3:111282997-111282998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536295838	chr3:111283055-111283056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564871092	chr3:111283067-111283068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72939556	chr3:111283073-111283074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532273592	chr3:111283108-111283109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371486316	chr3:111283131-111283132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538104825	chr3:111283137-111283138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191730502	chr3:111283237-111283238	Weak transcription 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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111269800-111289200	Weak transcription	Thymus	Thymus
2	chr3:111271600-111286000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:111271600-111286200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:111271600-111286600	Weak transcription	Fetal Thymus	thymus
5	chr3:111275000-111283800	Weak transcription	Dnd41	blood
6	chr3:111281000-111282000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:111281000-111282200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr3:111281000-111282400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:111281000-111282400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr3:111281000-111282800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:111281400-111282400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr3:111281400-111282400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:111281400-111285800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:111281600-111282000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr3:111281600-111282200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:111281600-111282200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr3:111281600-111282600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:111281800-111282200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:111281800-111282200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:111281800-111282400	Genic enhancers	Primary T cells from cord blood	blood
21	chr3:111281800-111283600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:111282000-111286200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr3:111282000-111286400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:111282200-111283400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:111282200-111283400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:111282200-111283600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr3:111282400-111282600	Weak transcription	Primary T cells from cord blood	blood
28	chr3:111282400-111283400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:111282400-111283400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr3:111282400-111283600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:111282400-111283600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:111282600-111282800	Enhancers	Primary T cells from cord blood	blood
33	chr3:111282600-111285600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:111282800-111283400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr3:111282800-111283800	Weak transcription	Primary T cells from cord blood	blood
36	chr3:111283400-111284000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr3:111283400-111284200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr3:111283400-111284200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:111283400-111286400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:111283400-111286600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr3:111283600-111284000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:111283600-111284200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr3:111283600-111284800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr3:111283600-111286400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:111283800-111284200	Strong transcription	Dnd41	blood
46	chr3:111283800-111285800	Enhancers	Primary T cells from cord blood	blood
47	chr3:111284000-111284200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr3:111284000-111288200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:111284200-111285000	Weak transcription	Dnd41	blood
50	chr3:111284200-111285200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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