Variant report

Variant	nsv874181
Chromosome Location	chr2:57225631-57272711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:57263280-57263430	HPF	lung:	n/a	n/a
2	CTCF	chr2:57269174-57269216	GM20000	blood:	n/a	n/a
3	CTCF	chr2:57263380-57263530	AG04449	skin:	n/a	n/a
4	CTCF	chr2:57263380-57263530	GM06990	blood:	n/a	n/a
5	CTCF	chr2:57263380-57263530	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr2:57263380-57263530	HMF	breast:	n/a	n/a
7	CTCF	chr2:57263320-57263470	HCFaa	heart:	n/a	n/a
8	CTCF	chr2:57263315-57263524	GM12878	blood:	n/a	n/a
9	CTCF	chr2:57263420-57263570	Caco-2	colon:	n/a	n/a
10	CTCF	chr2:57263377-57263549	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr2:57263340-57263490	AG04449	skin:	n/a	n/a
12	CTCF	chr2:57263400-57263550	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr2:57263440-57263499	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chr2:57263320-57263470	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr2:57263320-57263470	HVMF	connective:	n/a	n/a
16	CTCF	chr2:57263366-57263550	NHEK	skin:	n/a	n/a
17	CTCF	chr2:57263380-57263530	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr2:57263380-57263530	SAEC	small airway:	n/a	n/a
19	CTCF	chr2:57249280-57249430	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr2:57263402-57263471	A549	lung:	n/a	n/a
21	CTCF	chr2:57263320-57263470	NHEK	skin:	n/a	n/a
22	CTCF	chr2:57263358-57263544	MCF-7	breast:	n/a	n/a
23	CTCF	chr2:57263388-57263493	Gliobla	brain:	n/a	n/a
24	CTCF	chr2:57263400-57263550	HCT-116	colon:	n/a	n/a
25	CTCF	chr2:57263340-57263490	HMEC	breast:	n/a	n/a
26	CTCF	chr2:57263380-57263530	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr2:57241460-57241610	GM12865	blood:	n/a	n/a
28	CTCF	chr2:57263420-57263570	MCF-7	breast:	n/a	n/a
29	CTCF	chr2:57253988-57254086	Lung_OC	lung:	n/a	n/a
30	CTCF	chr2:57263360-57263510	HMEC	breast:	n/a	n/a
31	CTCF	chr2:57263430-57263458	HepG2	liver:	n/a	n/a
32	CTCF	chr2:57263417-57263505	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr2:57263218-57263613	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:57263320-57263470	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr2:57263360-57263510	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr2:57263380-57263530	HEK293	kidney:	n/a	n/a
37	CTCF	chr2:57263400-57263550	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:57263360-57263510	HPF	lung:	n/a	n/a
39	CTCF	chr2:57263368-57263530	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:57263320-57263470	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr2:57249500-57249650	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr2:57263380-57263530	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr2:57249300-57249450	BJ	skin:	n/a	n/a
44	CTCF	chr2:57263380-57263530	GM12869	blood:	n/a	n/a
45	CTCF	chr2:57263340-57263490	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr2:57263429-57263476	GM12878	blood:	n/a	n/a
47	CTCF	chr2:57263382-57263502	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:57268240-57268390	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr2:57263420-57263570	HMF	breast:	n/a	n/a
50	CTCF	chr2:57249420-57249570	HRPEpiC	eye:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:57271966..57274864-chr2:57279290..57282251,2	K562	blood:
2	chr2:57232953..57235028-chr2:57238339..57240137,2	K562	blood:
3	chr2:57232953..57235028-chr2:57238339..57240137,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238690	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548470461	chr2:57247525-57247526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs374831575	chr2:57247534-57247535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs112925434	chr2:57247560-57247561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs34824286	chr2:57247562-57247563	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537333424	chr2:57247563-57247564	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550607939	chr2:57247566-57247567	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs58652592	chr2:57247567-57247568	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188819176	chr2:57247569-57247570	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs192500507	chr2:57247591-57247592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs573235748	chr2:57247601-57247602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs146358037	chr2:57247615-57247616	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs535675720	chr2:57247628-57247629	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555264393	chr2:57247645-57247646	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570552767	chr2:57247648-57247649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs376940005	chr2:57247656-57247657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575544232	chr2:57247659-57247660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs544185578	chr2:57247660-57247661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs184917125	chr2:57247666-57247667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs145784946	chr2:57263037-57263038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138382367	chr2:57263042-57263043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141643167	chr2:57263068-57263069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146204731	chr2:57263129-57263130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112670619	chr2:57263166-57263167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1159285	chr2:57263176-57263177	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187990881	chr2:57263201-57263202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546085848	chr2:57263212-57263213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370396649	chr2:57263229-57263230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559234063	chr2:57263256-57263257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1319824	chr2:57263259-57263260	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs137892323	chr2:57263262-57263263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533652358	chr2:57263279-57263280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370832888	chr2:57263312-57263313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566747731	chr2:57263315-57263316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535653645	chr2:57263333-57263334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4099901	chr2:57263345-57263346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115135871	chr2:57263390-57263391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80150432	chr2:57266612-57266613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559470724	chr2:57266674-57266675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572714042	chr2:57266686-57266687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541605479	chr2:57266697-57266698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11886848	chr2:57266771-57266772	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs371986419	chr2:57266819-57266820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142913206	chr2:57266827-57266828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190795009	chr2:57266838-57266839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147421690	chr2:57266863-57266864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532347609	chr2:57266867-57266868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552286219	chr2:57266900-57266901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201090568	chr2:57266901-57266902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201474112	chr2:57266910-57266911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2902972	chr2:57266914-57266915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57263000-57263400	Enhancers	Pancreas	Pancrea
2	chr2:57266600-57267000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:57272200-57272800	Enhancers	Brain Angular Gyrus	brain
4	chr2:57272200-57273000	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:57272400-57272800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:57272400-57272800	Enhancers	Brain Substantia Nigra	brain

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