Variant report

Variant	nsv520043
Chromosome Location	chr8:19733568-19738812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19727136..19729555-chr8:19732389..19735213,2	K562	blood:
2	chr8:19737734..19739441-chr8:19740524..19742384,2	K562	blood:
3	chr8:19726580..19729500-chr8:19735751..19737530,2	K562	blood:

Extended variants
information (count: 221 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1561747	chr8:19733568-19733569	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73667443	chr8:19733643-19733644	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs139589014	chr8:19733658-19733659	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533543445	chr8:19733678-19733679	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs540765079	chr8:19733700-19733701	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs560624729	chr8:19733719-19733720	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557192430	chr8:19733730-19733731	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs35947767	chr8:19733737-19733738	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs529315437	chr8:19733778-19733779	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549360190	chr8:19733786-19733787	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569114096	chr8:19733811-19733812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531515370	chr8:19733836-19733837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190055049	chr8:19733911-19733912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575194990	chr8:19734009-19734010	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571145867	chr8:19734016-19734017	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533731787	chr8:19734072-19734073	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs553499465	chr8:19734086-19734087	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs143375742	chr8:19734106-19734107	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs535928052	chr8:19734110-19734111	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs556140696	chr8:19734136-19734137	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs542612744	chr8:19734138-19734139	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs377397343	chr8:19734149-19734150	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs544949664	chr8:19734159-19734160	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528781846	chr8:19734171-19734172	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs183072952	chr8:19734176-19734177	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs188550946	chr8:19734199-19734200	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540826368	chr8:19734267-19734268	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191495503	chr8:19734273-19734274	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs528797261	chr8:19734281-19734282	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs79523565	chr8:19734336-19734337	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs377357210	chr8:19734423-19734424	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs146713020	chr8:19734435-19734436	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562920164	chr8:19734436-19734437	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs531573652	chr8:19734450-19734451	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs139220802	chr8:19734455-19734456	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs183810426	chr8:19734459-19734460	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs527537136	chr8:19734463-19734464	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547360382	chr8:19734487-19734488	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs567315434	chr8:19734536-19734537	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540453514	chr8:19734555-19734556	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs536370025	chr8:19734560-19734561	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs555964062	chr8:19734571-19734572	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs149956368	chr8:19734575-19734576	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144907154	chr8:19734622-19734623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1548049	chr8:19734629-19734630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558533920	chr8:19734772-19734773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551421563	chr8:19734779-19734780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578250483	chr8:19734798-19734799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532406922	chr8:19734819-19734820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534451795	chr8:19734837-19734838	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19728200-19734000	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr8:19728400-19733600	Enhancers	Duodenum Mucosa	Duodenum
3	chr8:19728600-19733600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:19729000-19733600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:19732600-19733600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:19732600-19733600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:19733200-19735400	Enhancers	Adipose Nuclei	Adipose
8	chr8:19733200-19736400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:19733600-19733800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:19733600-19733800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:19733600-19733800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:19733600-19733800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr8:19733600-19734000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:19733600-19735800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:19733800-19734000	Enhancers	Duodenum Mucosa	Duodenum
16	chr8:19734000-19734200	Bivalent Enhancer	Primary B cells from cord blood	blood
17	chr8:19734000-19734200	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr8:19734000-19734600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr8:19734200-19735200	Enhancers	Primary B cells from cord blood	blood
20	chr8:19734200-19735200	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:19734600-19735000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:19735000-19735200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr8:19735000-19735400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:19735200-19736200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr8:19735400-19738000	Weak transcription	Adipose Nuclei	Adipose
26	chr8:19735800-19736000	Enhancers	Lung	lung
27	chr8:19735800-19738400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:19736000-19745800	Weak transcription	Lung	lung
29	chr8:19736200-19738400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:19736400-19738400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr8:19738000-19739200	Enhancers	Adipose Nuclei	Adipose
32	chr8:19738400-19738600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:19738400-19738600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:19738400-19738800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:19738400-19738800	Enhancers	Spleen	Spleen
36	chr8:19738400-19738800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr8:19738400-19739000	Enhancers	Right Ventricle	heart
38	chr8:19738400-19739200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr8:19738400-19739200	Enhancers	Left Ventricle	heart
40	chr8:19738600-19738800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:19738600-19742000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:19738800-19739200	Enhancers	Fetal Heart	heart
43	chr8:19738800-19742800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:19738800-19742800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:19738800-19743800	Weak transcription	Spleen	Spleen

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