Variant report

Variant	nsv1008982
Chromosome Location	chr2:57193127-57321227
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	ATF3	chr2:57307197-57307544	HCT-116	colon:	n/a	n/a
2	ATF3	chr2:57307177-57307600	HCT-116	colon:	n/a	n/a
3	BHLHE40	chr2:57296472-57296568	A549	lung:	n/a	n/a
4	CBX3	chr2:57307175-57307529	HCT-116	colon:	n/a	n/a
5	CBX3	chr2:57307210-57307602	HCT-116	colon:	n/a	n/a
6	CEBPB	chr2:57315662-57315950	HepG2	liver:	n/a	chr2:57315794-57315805
7	CEBPB	chr2:57304138-57304383	A549	lung:	n/a	chr2:57304254-57304265
8	CEBPB	chr2:57210010-57210254	K562	blood:	n/a	chr2:57210171-57210182
9	CEBPB	chr2:57210056-57210648	HepG2	liver:	n/a	chr2:57210171-57210182
10	CEBPB	chr2:57209986-57210649	A549	lung:	n/a	chr2:57210171-57210182
11	CEBPB	chr2:57297485-57297666	A549	lung:	n/a	chr2:57297542-57297553 chr2:57297542-57297555
12	CEBPB	chr2:57297417-57297708	HepG2	liver:	n/a	chr2:57297542-57297553 chr2:57297542-57297555
13	CEBPB	chr2:57210008-57210667	Hela-S3	cervix:	n/a	chr2:57210171-57210182
14	CEBPB	chr2:57281660-57281670	K562	blood:	n/a	n/a
15	CEBPB	chr2:57304143-57304343	HepG2	liver:	n/a	chr2:57304254-57304265
16	CEBPB	chr2:57315773-57315845	K562	blood:	n/a	chr2:57315794-57315805
17	CEBPB	chr2:57210399-57210603	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr2:57209998-57210535	IMR90	lung:	n/a	chr2:57210171-57210182
19	CEBPB	chr2:57281573-57281844	HepG2	liver:	n/a	chr2:57281722-57281733
20	CEBPB	chr2:57210085-57210188	H1-hESC	embryonic stem cell:	n/a	chr2:57210171-57210182
21	CEBPB	chr2:57307153-57307509	HCT-116	colon:	n/a	n/a
22	CEBPB	chr2:57315693-57315923	A549	lung:	n/a	chr2:57315794-57315805
23	CTCF	chr2:57212924-57212989	GM13977	blood:	n/a	n/a
24	CTCF	chr2:57212940-57213090	SAEC	small airway:	n/a	chr2:57212991-57213007
25	CTCF	chr2:57263380-57263530	GM06990	blood:	n/a	n/a
26	CTCF	chr2:57263380-57263530	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr2:57263280-57263430	HPF	lung:	n/a	n/a
28	CTCF	chr2:57263420-57263570	MCF-7	breast:	n/a	n/a
29	CTCF	chr2:57249500-57249650	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr2:57263360-57263510	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr2:57212860-57213010	HEEpiC	esophagus:	n/a	chr2:57212991-57213007
32	CTCF	chr2:57263366-57263550	NHEK	skin:	n/a	n/a
33	CTCF	chr2:57263358-57263544	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:57263320-57263470	NHEK	skin:	n/a	n/a
35	CTCF	chr2:57263402-57263471	A549	lung:	n/a	n/a
36	CTCF	chr2:57212938-57212990	GM10266	blood:	n/a	n/a
37	CTCF	chr2:57212940-57213090	HMF	breast:	n/a	chr2:57212991-57213007
38	CTCF	chr2:57212898-57213036	MCF-7	breast:	n/a	chr2:57212991-57213007
39	CTCF	chr2:57263380-57263530	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr2:57263380-57263530	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr2:57212895-57212986	GM13976	blood:	n/a	n/a
42	CTCF	chr2:57263360-57263510	HPF	lung:	n/a	n/a
43	CTCF	chr2:57263315-57263524	GM12878	blood:	n/a	n/a
44	CTCF	chr2:57263388-57263493	Gliobla	brain:	n/a	n/a
45	CTCF	chr2:57263380-57263530	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr2:57212940-57213090	HCT-116	colon:	n/a	chr2:57212991-57213007
47	CTCF	chr2:57212913-57212998	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr2:57263430-57263458	HepG2	liver:	n/a	n/a
49	CTCF	chr2:57268240-57268390	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr2:57269174-57269216	GM20000	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:57271966..57274864-chr2:57279290..57282251,2	K562	blood:
2	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
3	chr2:57275015..57275515-chr9:135897506..135898082,2	MCF-7	breast:
4	chr2:57232953..57235028-chr2:57238339..57240137,2	K562	blood:
5	chr2:50393423..50394149-chr2:57299588..57300484,2	MCF-7	breast:
6	chr2:57298072..57298949-chr7:67013799..67014465,2	MCF-7	breast:
7	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
8	chr2:57232953..57235028-chr2:57238339..57240137,2	K562	blood:
9	chr2:57271966..57274864-chr2:57279290..57282251,2	K562	blood:
10	chr2:57195854..57197711-chr2:57199623..57201221,2	MCF-7	breast:
11	chr2:56411333..56413032-chr2:57196055..57197741,2	MCF-7	breast:
12	chr2:57195854..57197711-chr2:57199623..57201221,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271115	TF binding region
ENSG00000238690	TF binding region
ENSG00000233251	chromatin interactions

Extended variants
information (count: 627 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539750070	chr2:57193641-57193642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373998865	chr2:57193642-57193643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368109926	chr2:57193648-57193649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17048562	chr2:57193680-57193681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541549665	chr2:57193706-57193707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180766072	chr2:57193731-57193732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183707800	chr2:57193753-57193754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1318764	chr2:57193758-57193759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189312536	chr2:57193841-57193842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11888362	chr2:57193872-57193873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529647596	chr2:57193887-57193888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368377307	chr2:57193904-57193905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552126946	chr2:57194014-57194015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60562169	chr2:57194015-57194016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546201884	chr2:57194023-57194024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397957788	chr2:57194026-57194027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568555144	chr2:57194027-57194028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181286814	chr2:57194038-57194039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375997792	chr2:57194047-57194048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528509327	chr2:57194053-57194054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186358924	chr2:57194083-57194084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562209887	chr2:57194091-57194092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531014002	chr2:57194095-57194096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191666288	chr2:57194101-57194102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369145974	chr2:57194110-57194111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564274360	chr2:57194114-57194115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138079483	chr2:57194125-57194126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546614236	chr2:57194161-57194162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566739640	chr2:57194168-57194169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570537008	chr2:57194206-57194207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548562170	chr2:57194208-57194209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568474964	chr2:57194371-57194372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78754865	chr2:57194377-57194378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557404531	chr2:57194384-57194385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577040024	chr2:57194401-57194402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371762174	chr2:57194427-57194428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376802978	chr2:57194442-57194443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540007180	chr2:57194443-57194444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181587383	chr2:57194475-57194476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186140443	chr2:57194496-57194497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149517894	chr2:57194538-57194539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190799306	chr2:57194585-57194586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575661191	chr2:57194586-57194587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183396720	chr2:57194601-57194602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7594039	chr2:57194617-57194618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144027998	chr2:57194647-57194648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562780529	chr2:57194676-57194677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531485654	chr2:57194688-57194689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551281831	chr2:57194730-57194731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79257741	chr2:57194754-57194755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57193600-57194400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:57193600-57194400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:57193600-57194400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:57194200-57194400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:57194400-57196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:57194400-57196200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:57194400-57196200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:57196200-57196600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:57196200-57196600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:57196200-57196800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:57196200-57196800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:57196200-57197600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:57198400-57199800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:57208400-57208800	Enhancers	HSMM	muscle
15	chr2:57263000-57263400	Enhancers	Pancreas	Pancrea
16	chr2:57266600-57267000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:57272200-57272800	Enhancers	Brain Angular Gyrus	brain
18	chr2:57272200-57273000	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:57272400-57272800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:57272400-57272800	Enhancers	Brain Substantia Nigra	brain
21	chr2:57273600-57274000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:57302000-57302400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:57302000-57303000	Enhancers	NHEK	skin
24	chr2:57302200-57302600	Enhancers	HMEC	breast
25	chr2:57302400-57304600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:57304600-57307000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:57306800-57307400	Enhancers	A549	lung
28	chr2:57307000-57307400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:57311200-57311800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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