Variant report

Variant	nsv521366
Chromosome Location	chr1:86916767-86922161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86910474..86912190-chr1:86919287..86922242,2	K562	blood:
2	chr1:86916080..86919550-chr1:86920732..86922559,3	K562	blood:
3	chr1:86921099..86922741-chr1:86931533..86933819,2	MCF-7	breast:
4	chr1:86916080..86919550-chr1:86920732..86922559,3	K562	blood:
5	chr1:86921660..86923666-chr1:86931095..86932797,2	K562	blood:

Extended variants
information (count: 200 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs969786	chr1:86916767-86916768	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146993079	chr1:86916769-86916770	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544216874	chr1:86916804-86916805	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs969787	chr1:86916821-86916822	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1334138	chr1:86916824-86916825	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546040755	chr1:86916852-86916853	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs969788	chr1:86916856-86916857	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs185053996	chr1:86916940-86916941	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs969789	chr1:86916948-86916949	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533725787	chr1:86916969-86916970	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547232848	chr1:86917016-86917017	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs969790	chr1:86917017-86917018	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs56098312	chr1:86917033-86917034	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76560428	chr1:86917038-86917039	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376126796	chr1:86917053-86917054	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191032640	chr1:86917085-86917086	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535131934	chr1:86917119-86917120	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386633159	chr1:86917137-86917138	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4291478	chr1:86917139-86917140	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540826410	chr1:86917143-86917144	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138912550	chr1:86917211-86917212	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71650262	chr1:86917212-86917213	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560619036	chr1:86917264-86917265	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113111568	chr1:86917292-86917293	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138106781	chr1:86917311-86917312	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555286055	chr1:86917332-86917333	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34620827	chr1:86917344-86917345	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570385465	chr1:86917376-86917377	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531712736	chr1:86917394-86917395	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140802254	chr1:86917400-86917401	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561642119	chr1:86917449-86917450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2791521	chr1:86917500-86917501	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs6576834	chr1:86917562-86917563	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570271950	chr1:86917634-86917635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539274038	chr1:86917640-86917641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535638322	chr1:86917704-86917705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183349774	chr1:86917802-86917803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150102787	chr1:86917851-86917852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374651123	chr1:86917884-86917885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368712006	chr1:86917885-86917886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4656100	chr1:86917944-86917945	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs555115340	chr1:86917955-86917956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4656101	chr1:86917957-86917958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4656102	chr1:86917960-86917961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572073474	chr1:86917985-86917986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537903610	chr1:86917997-86917998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534451662	chr1:86918001-86918002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554518179	chr1:86918005-86918006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149235332	chr1:86918007-86918008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77654286	chr1:86918042-86918043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86897200-86922600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:86897200-86922800	Strong transcription	HMEC	breast
3	chr1:86903400-86926800	Weak transcription	Esophagus	oesophagus
4	chr1:86914400-86917000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:86914600-86930800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:86915200-86920000	Strong transcription	NHEK	skin
7	chr1:86915400-86917400	Enhancers	HUVEC	blood vessel
8	chr1:86915600-86919400	Weak transcription	K562	blood
9	chr1:86916400-86917000	Enhancers	Dnd41	blood
10	chr1:86916400-86917400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:86916400-86921600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:86916800-86917200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:86916800-86917400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:86917000-86930600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:86919200-86919600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr1:86919400-86919600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:86919400-86919800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:86919400-86919800	Enhancers	K562	blood
19	chr1:86919800-86920800	Weak transcription	K562	blood
20	chr1:86920000-86924000	Weak transcription	NHEK	skin
21	chr1:86920800-86923400	Enhancers	K562	blood
22	chr1:86921600-86925400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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