Variant report

Variant	nsv525841
Chromosome Location	chr8:19957089-19970889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19956033..19958398-chr8:19960107..19963324,3	K562	blood:
2	chr8:19949357..19952211-chr8:19959629..19961993,2	K562	blood:
3	chr8:19956033..19958398-chr8:19960107..19963324,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC18A1-1	chr8:19970854-19971183	NONHSAT125391

Extended variants
information (count: 631 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:631 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7008150	chr8:19957089-19957090	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368344333	chr8:19957098-19957099	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187447606	chr8:19957108-19957109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs370660422	chr8:19957121-19957122	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs542082287	chr8:19957139-19957140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs79152111	chr8:19957163-19957164	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs76075258	chr8:19957186-19957187	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536275630	chr8:19957243-19957244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554292080	chr8:19957263-19957264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376873396	chr8:19957267-19957268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193030480	chr8:19957300-19957301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146305578	chr8:19957331-19957332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539643292	chr8:19957376-19957377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139468193	chr8:19957427-19957428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576675082	chr8:19957462-19957463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544161531	chr8:19957490-19957491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185704276	chr8:19957506-19957507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564983728	chr8:19957522-19957523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574665396	chr8:19957537-19957538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367582576	chr8:19957541-19957542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187588316	chr8:19957556-19957557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560292986	chr8:19957612-19957613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527737042	chr8:19957624-19957625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550574586	chr8:19957632-19957633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61065884	chr8:19957696-19957697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372325269	chr8:19957742-19957743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373663499	chr8:19957770-19957771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558208400	chr8:19957782-19957783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144308755	chr8:19957784-19957785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531978999	chr8:19957795-19957796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550187800	chr8:19957829-19957830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145238494	chr8:19957920-19957921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367599515	chr8:19957948-19957949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548127834	chr8:19957956-19957957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566136625	chr8:19957960-19957961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192797158	chr8:19957966-19957967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184106009	chr8:19958013-19958014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529732656	chr8:19958021-19958022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548454855	chr8:19958053-19958054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566659806	chr8:19958063-19958064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78746227	chr8:19958073-19958074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556100720	chr8:19958088-19958089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148883398	chr8:19958124-19958125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4559256	chr8:19958166-19958167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs73600300	chr8:19958229-19958230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188797223	chr8:19958261-19958262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546306837	chr8:19958272-19958273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142613741	chr8:19958308-19958309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531866380	chr8:19958312-19958313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543963795	chr8:19958316-19958317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19951600-19960400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:19952000-19961800	Weak transcription	Left Ventricle	heart
3	chr8:19956000-19957200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:19956000-19957200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr8:19956000-19957200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:19956200-19957200	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:19956200-19957200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:19956200-19957200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr8:19956200-19957200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr8:19956200-19957400	Enhancers	Primary T cells from cord blood	blood
11	chr8:19956200-19957400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:19956200-19957600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:19956200-19960400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:19956800-19957200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:19956800-19963400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:19957200-19960400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:19957200-19962800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:19957200-19963200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:19958200-19960400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:19958800-19959000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:19959000-19960600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:19959400-19959600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:19959600-19960400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:19960400-19960600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr8:19960400-19960600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:19960400-19961400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:19960400-19961600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:19960400-19961800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:19960400-19962000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr8:19960400-19962200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:19960400-19962200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:19960400-19962200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:19960400-19962200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:19960400-19962400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:19960400-19963000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr8:19960400-19964600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:19960600-19960800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr8:19960600-19960800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:19960600-19960800	Enhancers	Right Atrium	heart
40	chr8:19960600-19961000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr8:19960600-19961000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:19960600-19961000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:19960600-19961000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:19960600-19961000	Enhancers	Adipose Nuclei	Adipose
45	chr8:19960600-19961400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:19960600-19961400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:19960600-19962200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:19960600-19962400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr8:19960800-19961000	Enhancers	Right Ventricle	heart
50	chr8:19960800-19961200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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