Variant report

Variant	nsv979157
Chromosome Location	chr2:188279040-188281893
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	EP300	chr2:188279714-188279793	GM12878	blood:	n/a	n/a
2	IRF1	chr2:188280083-188280092	K562	blood:	n/a	n/a
3	POLR2A	chr2:188280371-188280375	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:188279841-188279863	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:188280264-188280277	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr2:188280536-188280566	A549	lung:	n/a	n/a
7	POLR2A	chr2:188279956-188279978	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr2:188280032-188280608	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr2:188280289-188280456	HUVEC	blood vessel:	n/a	n/a
10	RUNX3	chr2:188279617-188279977	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GAPDHP59	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377321816	chr2:188279070-188279071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190287707	chr2:188279122-188279123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556669091	chr2:188279159-188279160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571686391	chr2:188279168-188279169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574482403	chr2:188279243-188279244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17367069	chr2:188279249-188279250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573102417	chr2:188279269-188279270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555997358	chr2:188279304-188279305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534085558	chr2:188279306-188279307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13388347	chr2:188279334-188279335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79996754	chr2:188279347-188279348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543917670	chr2:188279359-188279360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112560004	chr2:188279419-188279420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2048486	chr2:188279448-188279449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577293620	chr2:188279453-188279454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182047496	chr2:188279479-188279480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560083836	chr2:188279530-188279531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527987321	chr2:188279531-188279532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377545155	chr2:188279587-188279588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62172374	chr2:188279600-188279601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201866431	chr2:188279605-188279606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115807974	chr2:188279606-188279607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35114345	chr2:188279616-188279617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5025472	chr2:188279617-188279618	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs5025473	chr2:188279618-188279619	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs200944203	chr2:188279619-188279620	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs571790666	chr2:188279626-188279627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs397837044	chr2:188279627-188279628	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs561347708	chr2:188279724-188279725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs138626955	chr2:188279744-188279745	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs550381405	chr2:188279761-188279762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571798177	chr2:188279856-188279857	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs141519306	chr2:188279920-188279921	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs575309736	chr2:188280056-188280057	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs527756016	chr2:188280093-188280094	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs377534003	chr2:188280095-188280096	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs546393930	chr2:188280129-188280130	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs146170599	chr2:188280149-188280150	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs533863836	chr2:188280160-188280161	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs137906069	chr2:188280247-188280248	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs573838089	chr2:188280248-188280249	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs537674649	chr2:188280257-188280258	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs555934263	chr2:188280309-188280310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114524344	chr2:188280310-188280311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186687063	chr2:188280372-188280373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3836095	chr2:188280383-188280384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559898830	chr2:188280395-188280396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571982459	chr2:188280428-188280429	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149528473	chr2:188280483-188280484	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370754199	chr2:188280484-188280485	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188269600-188309800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:188269800-188286200	Weak transcription	Left Ventricle	heart
3	chr2:188269800-188308400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:188270800-188280400	Weak transcription	Ovary	ovary
5	chr2:188270800-188286400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:188275600-188280000	Weak transcription	HUVEC	blood vessel
7	chr2:188280000-188282200	Enhancers	HUVEC	blood vessel
8	chr2:188280000-188282600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:188280400-188280600	Genic enhancers	Ovary	ovary
10	chr2:188280400-188280600	Enhancers	Psoas Muscle	Psoas
11	chr2:188280400-188280800	Enhancers	Lung	lung
12	chr2:188280600-188280800	Enhancers	Ovary	ovary
13	chr2:188280600-188286200	Weak transcription	Psoas Muscle	Psoas
14	chr2:188280800-188286000	Weak transcription	Ovary	ovary

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