Variant report

Variant	nsv521981
Chromosome Location	chr8:19626120-19632090
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	chr8:19626579..19627442-chr8:19636746..19637741,3	K562	blood:

Extended variants
information (count: 157 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7837390	chr8:19626120-19626121	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191748603	chr8:19626223-19626224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184924732	chr8:19626263-19626264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564812780	chr8:19626280-19626281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527500633	chr8:19626342-19626343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547151225	chr8:19626350-19626351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13254708	chr8:19626356-19626357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs529751063	chr8:19626390-19626391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188191592	chr8:19626425-19626426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1994786	chr8:19626439-19626440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149165120	chr8:19626441-19626442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558502411	chr8:19626494-19626495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1994787	chr8:19626535-19626536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534394626	chr8:19626539-19626540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12676952	chr8:19626594-19626595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574116903	chr8:19626646-19626647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80274215	chr8:19626654-19626655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556546138	chr8:19626717-19626718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576382481	chr8:19626721-19626722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544969619	chr8:19626724-19626725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75680133	chr8:19626726-19626727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113451974	chr8:19626729-19626730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113158847	chr8:19626750-19626751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112882827	chr8:19626760-19626761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529833128	chr8:19626789-19626790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374264209	chr8:19626805-19626806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549631240	chr8:19626806-19626807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117109432	chr8:19626833-19626834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193177708	chr8:19626862-19626863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558694530	chr8:19626884-19626885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572014557	chr8:19626885-19626886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534484367	chr8:19626894-19626895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143267350	chr8:19626901-19626902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35327513	chr8:19626935-19626936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200790113	chr8:19626936-19626937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74425877	chr8:19626954-19626955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567734773	chr8:19626986-19626987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536829516	chr8:19626994-19626995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556399392	chr8:19627022-19627023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200984799	chr8:19627101-19627102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574041718	chr8:19627125-19627126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576444339	chr8:19627130-19627131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535172852	chr8:19627140-19627141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538654062	chr8:19627249-19627250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558525580	chr8:19627290-19627291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185425899	chr8:19627337-19627338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369997882	chr8:19627345-19627346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55684005	chr8:19627356-19627357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561166228	chr8:19627357-19627358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112424130	chr8:19627360-19627361	Enhancers	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
Lung adenocarcinoma	21935476	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19624400-19626200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr8:19625000-19626200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:19625200-19627600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:19625400-19626200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:19625400-19626200	Enhancers	Pancreas	Pancrea
6	chr8:19625600-19626200	Enhancers	Brain Hippocampus Middle	brain
7	chr8:19625600-19627600	Enhancers	K562	blood
8	chr8:19625800-19627000	Weak transcription	Brain Anterior Caudate	brain
9	chr8:19626000-19627000	Weak transcription	Brain Substantia Nigra	brain
10	chr8:19626200-19627000	Weak transcription	Pancreas	Pancrea
11	chr8:19626200-19627200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:19626600-19627400	Enhancers	Stomach Mucosa	stomach
13	chr8:19627000-19627600	Enhancers	Brain Anterior Caudate	brain
14	chr8:19627000-19627600	Enhancers	Brain Substantia Nigra	brain
15	chr8:19627000-19627600	Enhancers	Pancreas	Pancrea
16	chr8:19627000-19627800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:19627400-19627600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:19627600-19628800	Weak transcription	K562	blood
19	chr8:19627800-19628200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:19628200-19628600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:19628800-19629600	Enhancers	K562	blood

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