Variant report

Variant	nsv961794
Chromosome Location	chr2:73596795-73598813
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	chr2:73598725-73598880	A549	lung:	n/a	n/a
2	CTCF	chr2:73597120-73597270	GM12868	blood:	n/a	n/a
3	CTCF	chr2:73597211-73597244	GM10248	blood:	n/a	n/a
4	JUND	chr2:73596620-73596833	HepG2	liver:	n/a	chr2:73596723-73596735 chr2:73596724-73596733 chr2:73596725-73596733 chr2:73596723-73596734 chr2:73596725-73596734 chr2:73596725-73596732
5	UBTF	chr2:73598316-73598342	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73596191..73598481-chr2:73612504..73614239,2	K562	blood:
2	chr2:73597856..73600814-chr2:73611443..73614137,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214484	TF binding region
ENSG00000116127	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188300474	chr2:73596832-73596833	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11126398	chr2:73596951-73596952	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77231634	chr2:73596972-73596973	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531205706	chr2:73596990-73596991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552619521	chr2:73597018-73597019	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2901437	chr2:73597024-73597025	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs535151883	chr2:73597057-73597058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572664384	chr2:73597142-73597143	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185647361	chr2:73597157-73597158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568500589	chr2:73597165-73597166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536059485	chr2:73597175-73597176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554720336	chr2:73597177-73597178	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575946240	chr2:73597210-73597211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545438484	chr2:73597211-73597212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558156388	chr2:73597217-73597218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576424933	chr2:73597244-73597245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541160045	chr2:73597262-73597263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559194045	chr2:73597303-73597304	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574429769	chr2:73597305-73597306	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558901535	chr2:73597332-73597333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190505285	chr2:73597345-73597346	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531266289	chr2:73597371-73597372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116727109	chr2:73597467-73597468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534079428	chr2:73597474-73597475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564519179	chr2:73597488-73597489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371433983	chr2:73597489-73597490	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528487176	chr2:73597501-73597502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181754317	chr2:73597504-73597505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568481966	chr2:73597505-73597506	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535908552	chr2:73597526-73597527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548118562	chr2:73597553-73597554	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569488968	chr2:73597649-73597650	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs137990979	chr2:73597688-73597689	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1852644	chr2:73597718-73597719	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs75839769	chr2:73597751-73597752	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534326803	chr2:73597752-73597753	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552907961	chr2:73597796-73597797	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530629310	chr2:73597873-73597874	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113389386	chr2:73597876-73597877	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541894298	chr2:73597919-73597920	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368430217	chr2:73597932-73597933	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs142205873	chr2:73597950-73597951	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371109348	chr2:73597995-73597996	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1403412	chr2:73598092-73598093	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs574991655	chr2:73598093-73598094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564771109	chr2:73598096-73598097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145938356	chr2:73598100-73598101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536031458	chr2:73598109-73598110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539115904	chr2:73598127-73598128	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185915061	chr2:73598250-73598251	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73597600-73598000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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