Variant report

Variant	nsv1021366
Chromosome Location	chr8:20624387-20726669
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	chr8:20724387..20726387-chr8:20728763..20730962,2	K562	blood:
2	chr8:20292679..20293278-chr8:20647078..20647630,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1B2-8	chr8:20628026-20628101	NONHSAT125403

Extended variants
information (count: 2793 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:2793 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559097583	chr8:20624390-20624391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138084156	chr8:20624405-20624406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182291701	chr8:20624423-20624424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60542736	chr8:20624443-20624444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368185180	chr8:20624449-20624450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150103252	chr8:20624458-20624459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563466661	chr8:20624465-20624466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558462768	chr8:20624471-20624472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374799753	chr8:20624487-20624488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530763291	chr8:20624513-20624514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185711932	chr8:20624570-20624571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs67406829	chr8:20624579-20624580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57810899	chr8:20624580-20624581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561328594	chr8:20624588-20624589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188974786	chr8:20624606-20624607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546924324	chr8:20624609-20624610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61706499	chr8:20624629-20624630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114506134	chr8:20624649-20624650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180987341	chr8:20624663-20624664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61082722	chr8:20624670-20624671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185568937	chr8:20624714-20624715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375536997	chr8:20624722-20624723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190377620	chr8:20624726-20624727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181528183	chr8:20624745-20624746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186281403	chr8:20624765-20624766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138715937	chr8:20624779-20624780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552932514	chr8:20624802-20624803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10097039	chr8:20624804-20624805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545274857	chr8:20624818-20624819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28447174	chr8:20624830-20624831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs369623661	chr8:20624858-20624859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575622509	chr8:20624862-20624863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35386511	chr8:20624928-20624929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192258297	chr8:20624932-20624933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553553555	chr8:20624941-20624942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74755234	chr8:20624946-20624947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553113580	chr8:20624956-20624957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528581481	chr8:20624994-20624995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546818369	chr8:20625029-20625030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565265338	chr8:20625039-20625040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532428706	chr8:20625068-20625069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10503692	chr8:20625091-20625092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569173822	chr8:20625098-20625099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142776088	chr8:20625099-20625100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548329493	chr8:20625143-20625144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147345962	chr8:20625193-20625194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559913328	chr8:20625200-20625201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567002341	chr8:20625202-20625203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534708369	chr8:20625218-20625219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552829355	chr8:20625231-20625232	Weak transcription	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20623800-20624400	Enhancers	Fetal Heart	heart
2	chr8:20624400-20628800	Weak transcription	Fetal Heart	heart
3	chr8:20628600-20629000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:20628600-20630800	Enhancers	Left Ventricle	heart
5	chr8:20628800-20631400	Enhancers	Fetal Heart	heart
6	chr8:20629000-20629600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:20630400-20631200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:20642200-20647400	Enhancers	Fetal Heart	heart
9	chr8:20642600-20642800	Enhancers	Left Ventricle	heart
10	chr8:20643000-20644200	Weak transcription	Left Ventricle	heart
11	chr8:20643200-20643400	Enhancers	Right Atrium	heart
12	chr8:20643400-20643800	Enhancers	Colon Smooth Muscle	Colon
13	chr8:20643400-20644000	Weak transcription	Right Atrium	heart
14	chr8:20643600-20644200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:20644000-20644200	Enhancers	Right Atrium	heart
16	chr8:20644000-20645200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:20644200-20644800	Enhancers	Left Ventricle	heart
18	chr8:20644200-20651000	Weak transcription	Right Atrium	heart
19	chr8:20645200-20647200	Enhancers	Fetal Stomach	stomach
20	chr8:20645600-20646000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:20645600-20647200	Enhancers	Fetal Brain Female	brain
22	chr8:20646600-20647000	Enhancers	Fetal Lung	lung
23	chr8:20646600-20647400	Enhancers	Fetal Brain Male	brain
24	chr8:20647200-20649400	Weak transcription	Fetal Stomach	stomach
25	chr8:20647400-20657600	Weak transcription	Fetal Heart	heart
26	chr8:20648400-20649200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:20649400-20650200	Enhancers	Fetal Stomach	stomach
28	chr8:20656400-20659400	Enhancers	Brain Germinal Matrix	brain
29	chr8:20656800-20657000	Enhancers	Fetal Brain Female	brain
30	chr8:20657000-20658200	Weak transcription	Fetal Brain Female	brain
31	chr8:20657200-20657400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:20657200-20658000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:20657200-20658400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:20657400-20658800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:20657400-20661000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:20657600-20658000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:20657600-20658000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:20657600-20658000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:20657600-20659400	Enhancers	Fetal Heart	heart
40	chr8:20657800-20658200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:20658000-20658200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:20658000-20659200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:20658000-20659400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:20658000-20661000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:20658200-20658600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:20658200-20658800	Enhancers	Fetal Brain Female	brain
47	chr8:20658200-20661000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:20658400-20659000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:20658600-20661400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:20659400-20659600	Enhancers	HUES6 Cell Line	embryonic stem cell

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