Variant report

Variant	nsv592416
Chromosome Location	chr3:163557163-163585969
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	chr3:163580902..163583898-chr3:163589100..163591236,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1492787	chr3:163557163-163557164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181412716	chr3:163557171-163557172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562766606	chr3:163557236-163557237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531705410	chr3:163557237-163557238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546222609	chr3:163557255-163557256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185528896	chr3:163557265-163557266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9860328	chr3:163557282-163557283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182920182	chr3:163557292-163557293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186038945	chr3:163557332-163557333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570933339	chr3:163557337-163557338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs36022510	chr3:163557357-163557358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs55716404	chr3:163557800-163557801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369384884	chr3:163557892-163557893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534465610	chr3:163557903-163557904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555989841	chr3:163557907-163557908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79828853	chr3:163557966-163557967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144474577	chr3:163559014-163559015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547805310	chr3:163559050-163559051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs567948444	chr3:163559092-163559093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536483167	chr3:163559100-163559101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs550403829	chr3:163559114-163559115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs113479109	chr3:163559132-163559133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560732484	chr3:163559187-163559188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs544914180	chr3:163559190-163559191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs189966019	chr3:163559196-163559197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs542340790	chr3:163566052-163566053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562241267	chr3:163566141-163566142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577099097	chr3:163566183-163566184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541796779	chr3:163566450-163566451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188578067	chr3:163566461-163566462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527371383	chr3:163566464-163566465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35728333	chr3:163566566-163566567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376104283	chr3:163566679-163566680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570155883	chr3:163566701-163566702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373302999	chr3:163566743-163566744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538720049	chr3:163566795-163566796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148692764	chr3:163566816-163566817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192695743	chr3:163566819-163566820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565908912	chr3:163566854-163566855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375746818	chr3:163566919-163566920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200384983	chr3:163566925-163566926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534110402	chr3:163566930-163566931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77981120	chr3:163566946-163566947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370125553	chr3:163567009-163567010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372567207	chr3:163567010-163567011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566824177	chr3:163567011-163567012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115616277	chr3:163567020-163567021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532711173	chr3:163567047-163567048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13059328	chr3:163567058-163567059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13059483	chr3:163567068-163567069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163556600-163557200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:163557000-163557400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:163557800-163558000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163559000-163559200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:163566000-163566200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:163566400-163567400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:163566800-163567200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:163567000-163567600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:163567000-163567600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:163577600-163578800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:163582000-163582200	Enhancers	Pancreas	Pancrea

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