Variant report

Variant	nsv963885
Chromosome Location	chr2:141918827-141927844
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	chr2:141920037-141920078	LNCaP	prostate:	n/a	n/a
2	E2F4	chr2:141927622-141927725	MCF10A-Er-Src	breast:	n/a	n/a
3	FAM48A	chr2:141923135-141923254	GM12878	blood:	n/a	n/a
4	FOS	chr2:141919987-141920210	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr2:141919972-141920222	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr2:141919888-141920298	Hela-S3	cervix:	n/a	n/a
7	FOSL2	chr2:141919862-141920357	MCF-7	breast:	n/a	n/a
8	GATA3	chr2:141919904-141920251	MCF-7	breast:	n/a	n/a
9	JUND	chr2:141920102-141920154	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUND	chr2:141919972-141920186	HepG2	liver:	n/a	chr2:141920079-141920090
11	JUND	chr2:141919883-141920271	Hela-S3	cervix:	n/a	chr2:141920079-141920090
12	NR2F2	chr2:141919933-141920329	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:141923862-141924029	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr2:141926602-141926749	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:141913575..141915703-chr2:141918987..141921104,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-904P	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34332358	chr2:141919819-141919820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13428151	chr2:141919828-141919829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547770954	chr2:141919836-141919837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567708297	chr2:141919870-141919871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544203073	chr2:141919871-141919872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536635374	chr2:141919901-141919902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550330103	chr2:141919921-141919922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140363562	chr2:141919923-141919924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2222233	chr2:141919943-141919944	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558432341	chr2:141919965-141919966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188216386	chr2:141919979-141919980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534568300	chr2:141920048-141920049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554846744	chr2:141920051-141920052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116486875	chr2:141920058-141920059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542999312	chr2:141920075-141920076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570579222	chr2:141920081-141920082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556668207	chr2:141920116-141920117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2203809	chr2:141920136-141920137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs180971072	chr2:141920159-141920160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565298276	chr2:141920160-141920161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149965529	chr2:141920176-141920177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546958755	chr2:141920184-141920185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541399383	chr2:141920186-141920187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561546115	chr2:141920197-141920198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs16845527	chr2:141920218-141920219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs550170958	chr2:141920223-141920224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186386064	chr2:141920246-141920247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553108288	chr2:141920331-141920332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144990517	chr2:141920350-141920351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141063066	chr2:141920466-141920467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534806930	chr2:141920469-141920470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145050752	chr2:141920581-141920582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189656722	chr2:141920582-141920583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145192614	chr2:141926603-141926604	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs558804233	chr2:141926622-141926623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs79700219	chr2:141926705-141926706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs560118537	chr2:141927416-141927417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538196387	chr2:141927437-141927438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183079868	chr2:141927441-141927442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187734012	chr2:141927503-141927504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193103522	chr2:141927537-141927538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1249456	chr2:141927544-141927545	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs16845549	chr2:141927561-141927562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554104270	chr2:141927679-141927680	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs377494325	chr2:141927684-141927685	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs556382865	chr2:141927686-141927687	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs147078848	chr2:141927695-141927696	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs557012206	chr2:141927730-141927731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576596840	chr2:141927786-141927787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189143203	chr2:141927787-141927788	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141919800-141920600	Enhancers	Hela-S3	cervix
2	chr2:141920000-141920600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:141927400-141927800	Enhancers	Dnd41	blood

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