Variant report

Variant	nsv981939
Chromosome Location	chr8:54625558-54627152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535094299	chr8:54625565-54625566	Weak transcription Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113375903	chr8:54625568-54625569	Weak transcription Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs58970885	chr8:54625578-54625579	Weak transcription Active TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111399835	chr8:54625591-54625592	Weak transcription Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528959148	chr8:54625601-54625602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543987708	chr8:54625602-54625603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557697453	chr8:54625698-54625699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574354287	chr8:54625712-54625713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541485198	chr8:54625722-54625723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549070416	chr8:54625726-54625727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55686254	chr8:54625729-54625730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561705956	chr8:54625745-54625746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527430775	chr8:54625754-54625755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541113310	chr8:54625784-54625785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563984057	chr8:54625790-54625791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532961395	chr8:54625817-54625818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142527662	chr8:54625827-54625828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569627571	chr8:54625829-54625830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372540163	chr8:54625861-54625862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549137005	chr8:54625944-54625945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566048069	chr8:54625953-54625954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73682541	chr8:54625980-54625981	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551857023	chr8:54626046-54626047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368275489	chr8:54626061-54626062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552105556	chr8:54626066-54626067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186750722	chr8:54626077-54626078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34190866	chr8:54626091-54626092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375506092	chr8:54626092-54626093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557562574	chr8:54626150-54626151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115074928	chr8:54626162-54626163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370206844	chr8:54626163-54626164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184179679	chr8:54626202-54626203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555112901	chr8:54626207-54626208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572001296	chr8:54626228-54626229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540620544	chr8:54626261-54626262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563846150	chr8:54626275-54626276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577283091	chr8:54626313-54626314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142901421	chr8:54626318-54626319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557489600	chr8:54626327-54626328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57606700	chr8:54626343-54626344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563119481	chr8:54626368-54626369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529207011	chr8:54626404-54626405	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549249897	chr8:54626427-54626428	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57550901	chr8:54626448-54626449	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs567685103	chr8:54626468-54626469	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528495295	chr8:54626510-54626511	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7009705	chr8:54626539-54626540	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571792111	chr8:54626550-54626551	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188527523	chr8:54626569-54626570	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550180831	chr8:54626653-54626654	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54605800-54626800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:54613600-54629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54613600-54634800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:54620800-54636200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:54620800-54636200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:54621000-54629000	Weak transcription	Gastric	stomach
7	chr8:54621400-54643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:54622200-54632800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:54622400-54626400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:54624000-54626600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:54624200-54625600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:54624200-54635800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:54624200-54640600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:54624200-54643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:54624400-54625600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:54624400-54625600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:54624400-54625600	Active TSS	Colon Smooth Muscle	Colon
18	chr8:54624400-54625600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:54624400-54625600	Active TSS	A549	lung
20	chr8:54624600-54625600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr8:54624600-54625600	Active TSS	Ovary	ovary
22	chr8:54624600-54625600	Active TSS	Stomach Smooth Muscle	stomach
23	chr8:54624600-54625600	Active TSS	NHEK	skin
24	chr8:54624600-54639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:54624800-54625600	Active TSS	Rectal Smooth Muscle	rectum
26	chr8:54624800-54626200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:54625000-54625600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:54625000-54626400	Weak transcription	Primary B cells from cord blood	blood
29	chr8:54625000-54628800	Weak transcription	Stomach Mucosa	stomach
30	chr8:54625000-54640000	Weak transcription	Fetal Thymus	thymus
31	chr8:54625000-54642000	Weak transcription	Brain Substantia Nigra	brain
32	chr8:54625200-54626000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:54625200-54626800	Weak transcription	Dnd41	blood
34	chr8:54625200-54627800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:54625200-54634600	Weak transcription	Pancreas	Pancrea
36	chr8:54625200-54635800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:54625200-54639800	Weak transcription	Thymus	Thymus
38	chr8:54625200-54641200	Weak transcription	Brain Angular Gyrus	brain
39	chr8:54625200-54649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:54625200-54649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:54625400-54625600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:54625400-54625600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:54625400-54625600	Enhancers	Brain Hippocampus Middle	brain
44	chr8:54625400-54626000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:54625400-54626000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr8:54625400-54626600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:54625400-54626800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:54625400-54626800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:54625400-54626800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:54625400-54626800	Weak transcription	Liver	Liver

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