Variant report

Variant	nsv460923
Chromosome Location	chr3:161890678-161937965
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
2	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:
3	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:
4	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
5	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:

Extended variants
information (count: 1163 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1163 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139594056	chr3:161893009-161893010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143592024	chr3:161893028-161893029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116059283	chr3:161893039-161893040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12496424	chr3:161893088-161893089	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs377404549	chr3:161893123-161893124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183846562	chr3:161893129-161893130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563407002	chr3:161893149-161893150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144060774	chr3:161893204-161893205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552246448	chr3:161893254-161893255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565679604	chr3:161893271-161893272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115259361	chr3:161893281-161893282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548201686	chr3:161893350-161893351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73878562	chr3:161893369-161893370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35419819	chr3:161893370-161893371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187680683	chr3:161893389-161893390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550722548	chr3:161893398-161893399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150468512	chr3:161893405-161893406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6778533	chr3:161893417-161893418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12493096	chr3:161893419-161893420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576974012	chr3:161893420-161893421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148678156	chr3:161893491-161893492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192361907	chr3:161893507-161893508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142215646	chr3:161893519-161893520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184780805	chr3:161893530-161893531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187969413	chr3:161893540-161893541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555812964	chr3:161893574-161893575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575878180	chr3:161893577-161893578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1510337	chr3:161893584-161893585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192737709	chr3:161893592-161893593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533515947	chr3:161893604-161893605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545921802	chr3:161893689-161893690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116268891	chr3:161893728-161893729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116823917	chr3:161893762-161893763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151234267	chr3:161893789-161893790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568307370	chr3:161893794-161893795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140013960	chr3:161893821-161893822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184722142	chr3:161893844-161893845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113906695	chr3:161893892-161893893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79363568	chr3:161893926-161893927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553074132	chr3:161893933-161893934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566603776	chr3:161893934-161893935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13323279	chr3:161893962-161893963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189677087	chr3:161893977-161893978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190041382	chr3:161893985-161893986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555722658	chr3:161894004-161894005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575895719	chr3:161894014-161894015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544889088	chr3:161894028-161894029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73878563	chr3:161894059-161894060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375650365	chr3:161894071-161894072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578226194	chr3:161894106-161894107	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Prostate cancer	18632612	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
Bladder cancer	21909424	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
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161893000-161894000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:161893800-161894600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr3:161894600-161895000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:161910200-161910400	Enhancers	Psoas Muscle	Psoas
5	chr3:161910400-161911600	Enhancers	Fetal Heart	heart
6	chr3:161910600-161911000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:161910800-161911400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:161911000-161911800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:161911000-161912400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:161911000-161919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:161911600-161913400	Weak transcription	Fetal Heart	heart
12	chr3:161911800-161914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:161912600-161913600	Enhancers	Psoas Muscle	Psoas
14	chr3:161913000-161913600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr3:161913000-161913600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr3:161913400-161913600	Enhancers	Fetal Heart	heart
17	chr3:161914400-161914600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:161914400-161915000	Enhancers	Dnd41	blood
19	chr3:161918400-161920800	Weak transcription	NHDF-Ad	bronchial
20	chr3:161918600-161919200	Enhancers	Fetal Lung	lung
21	chr3:161919000-161919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:161920400-161921600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:161920600-161921600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:161920600-161921800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:161920800-161921200	Enhancers	NHDF-Ad	bronchial
26	chr3:161920800-161921600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:161921200-161929000	Weak transcription	NHDF-Ad	bronchial
28	chr3:161921600-161922000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:161921600-161922000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:161922000-161922800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:161922000-161923200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:161923200-161931600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:161928200-161928400	Enhancers	Colon Smooth Muscle	Colon
34	chr3:161928600-161929200	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:161929000-161929400	Enhancers	NHDF-Ad	bronchial
36	chr3:161929000-161930000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:161929200-161929400	Enhancers	Colon Smooth Muscle	Colon
38	chr3:161929200-161929600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:161929200-161929800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:161929400-161934200	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:161929600-161935200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:161929800-161935000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:161931400-161932000	Enhancers	Fetal Lung	lung
44	chr3:161931600-161932600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:161932600-161934800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:161934200-161934400	Enhancers	Psoas Muscle	Psoas
47	chr3:161934200-161934400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr3:161934200-161934800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr3:161934200-161937000	Enhancers	Colon Smooth Muscle	Colon
50	chr3:161934600-161935200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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