Variant report

Variant	nsv979008
Chromosome Location	chr2:62757678-62762052
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	chr2:62761320-62761470	AG10803	skin:	n/a	n/a
2	E2F4	chr2:62757738-62757854	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F6	chr2:62758186-62758618	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:62761200-62761342	K562	blood:	n/a	n/a
5	TCF7L2	chr2:62757099-62757718	HepG2	liver:	n/a	chr2:62757382-62757392 chr2:62757381-62757395 chr2:62757384-62757393 chr2:62757380-62757396 chr2:62757380-62757396 chr2:62757383-62757392
6	TCF7L2	chr2:62757021-62757701	HEK293	kidney:	n/a	chr2:62757382-62757392 chr2:62757381-62757395 chr2:62757384-62757393 chr2:62757380-62757396 chr2:62757380-62757396 chr2:62757383-62757392

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:62750475..62752947-chr2:62754435..62758816,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229503	TF binding region

Extended variants
information (count: 177 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4494727	chr2:62757683-62757684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552147073	chr2:62757699-62757700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141490663	chr2:62757707-62757708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538154484	chr2:62757722-62757723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550022868	chr2:62757774-62757775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549433745	chr2:62757775-62757776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569384007	chr2:62757789-62757790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17025438	chr2:62757790-62757791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549696359	chr2:62757828-62757829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150850945	chr2:62757877-62757878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190821629	chr2:62757898-62757899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539485809	chr2:62757937-62757938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139282855	chr2:62757948-62757949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4490165	chr2:62757985-62757986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543756623	chr2:62757991-62757992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561989270	chr2:62757994-62757995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4399711	chr2:62758044-62758045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs181694602	chr2:62758054-62758055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149300921	chr2:62758065-62758066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527785578	chr2:62758084-62758085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575190680	chr2:62758085-62758086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552208536	chr2:62758088-62758089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564151456	chr2:62758089-62758090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185109225	chr2:62758101-62758102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550086573	chr2:62758117-62758118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6708322	chr2:62758232-62758233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs17575420	chr2:62758283-62758284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547966773	chr2:62758292-62758293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566093875	chr2:62758312-62758313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539546693	chr2:62758335-62758336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542780054	chr2:62758372-62758373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146232910	chr2:62758426-62758427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537022747	chr2:62758450-62758451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139434449	chr2:62758457-62758458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369037299	chr2:62758558-62758559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573870690	chr2:62758596-62758597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540917636	chr2:62758611-62758612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6752833	chr2:62758620-62758621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs577378594	chr2:62758646-62758647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545910073	chr2:62758658-62758659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144138769	chr2:62758754-62758755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6708968	chr2:62758756-62758757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs140781388	chr2:62758795-62758796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527620527	chr2:62758865-62758866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562288670	chr2:62758918-62758919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529594562	chr2:62758919-62758920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146433913	chr2:62758922-62758923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6753189	chr2:62758933-62758934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533539075	chr2:62758964-62758965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551530391	chr2:62759024-62759025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62749200-62760400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:62754200-62758400	Weak transcription	Pancreas	Pancrea
3	chr2:62754200-62766800	Weak transcription	Ovary	ovary
4	chr2:62758400-62759000	Enhancers	Pancreas	Pancrea
5	chr2:62759000-62766600	Weak transcription	Pancreas	Pancrea
6	chr2:62760400-62760800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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