Variant report

Variant	nsv581987
Chromosome Location	chr2:53529557-53551600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:
2	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:

Extended variants
information (count: 683 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:683 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146114336	chr2:53535423-53535424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185789884	chr2:53535424-53535425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559220251	chr2:53535456-53535457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578078663	chr2:53535466-53535467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540588816	chr2:53535470-53535471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112189553	chr2:53535471-53535472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370934701	chr2:53535481-53535482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140155620	chr2:53535482-53535483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79212919	chr2:53535497-53535498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150960579	chr2:53535516-53535517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570899830	chr2:53535547-53535548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539840036	chr2:53535555-53535556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182337048	chr2:53535589-53535590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139439341	chr2:53535590-53535591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115372215	chr2:53535595-53535596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375835472	chr2:53535635-53535636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200351971	chr2:53535679-53535680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555951892	chr2:53535700-53535701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575700695	chr2:53535708-53535709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543512098	chr2:53535720-53535721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563032872	chr2:53535793-53535794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576473536	chr2:53535825-53535826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149672616	chr2:53535897-53535898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559257019	chr2:53535917-53535918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528400669	chr2:53535972-53535973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548155818	chr2:53536022-53536023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369965088	chr2:53536067-53536068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561931110	chr2:53536162-53536163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530609688	chr2:53536167-53536168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147841662	chr2:53536172-53536173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560790661	chr2:53536189-53536190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372645272	chr2:53536191-53536192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570936621	chr2:53536198-53536199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113878428	chr2:53536200-53536201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549272224	chr2:53538207-53538208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564902664	chr2:53538211-53538212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528001330	chr2:53538257-53538258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7594828	chr2:53538303-53538304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561334117	chr2:53538347-53538348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148642404	chr2:53538379-53538380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548849344	chr2:53538401-53538402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553130895	chr2:53538411-53538412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371295715	chr2:53538435-53538436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7608879	chr2:53538442-53538443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs531365480	chr2:53538443-53538444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557951144	chr2:53538456-53538457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551410167	chr2:53538468-53538469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183793166	chr2:53538477-53538478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189238692	chr2:53538481-53538482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144344115	chr2:53538511-53538512	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53535400-53536200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:53538200-53538800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:53538200-53538800	Enhancers	HMEC	breast
4	chr2:53538400-53538800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:53538400-53538800	Enhancers	NHEK	skin
6	chr2:53538400-53540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:53538400-53544000	Enhancers	Hela-S3	cervix
8	chr2:53538800-53541600	Enhancers	Pancreas	Pancrea
9	chr2:53539000-53539400	Weak transcription	NHEK	skin
10	chr2:53539000-53540400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:53540000-53540200	ZNF genes & repeats	NHEK	skin
12	chr2:53540200-53541400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:53540200-53542600	Enhancers	NHEK	skin
14	chr2:53540600-53542800	Enhancers	HMEC	breast
15	chr2:53541400-53542600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:53541600-53546400	Weak transcription	Pancreas	Pancrea
17	chr2:53541800-53542600	Enhancers	NH-A	brain
18	chr2:53542000-53542600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:53542400-53543000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:53542600-53543200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:53542600-53543400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:53542600-53543400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:53542600-53550800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:53544000-53545000	Weak transcription	Hela-S3	cervix
25	chr2:53545000-53545600	Enhancers	Hela-S3	cervix
26	chr2:53546400-53546600	Enhancers	Pancreas	Pancrea

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