Variant report

Variant	nsv972537
Chromosome Location	chr8:61443763-61449601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61445869..61450091-chr8:61450711..61454496,4	K562	blood:
2	chr8:61429558..61431582-chr8:61442478..61445691,3	MCF-7	breast:
3	chr8:61441691..61443859-chr8:61448875..61451711,2	K562	blood:
4	chr8:61441691..61443859-chr8:61448875..61451711,2	K562	blood:
5	chr8:61427036..61429414-chr8:61445945..61448319,2	K562	blood:
6	chr8:61446080..61449984-chr8:61450187..61453162,6	K562	blood:
7	chr8:61429630..61431593-chr8:61443354..61445329,3	K562	blood:

Variant related genes	Relation type
ENSG00000104388	chromatin interactions
ENSG00000251396	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs538842536	chr8:61443772-61443773	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138432535	chr8:61443853-61443854	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7825285	chr8:61443905-61443906	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539921773	chr8:61443920-61443921	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs11993479	chr8:61443969-61443970	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573543769	chr8:61443974-61443975	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78056906	chr8:61443983-61443984	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562770242	chr8:61443985-61443986	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375009642	chr8:61444060-61444061	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533218504	chr8:61444144-61444145	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2680303	chr8:61444147-61444148	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569420574	chr8:61444148-61444149	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545329427	chr8:61444197-61444198	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560353726	chr8:61444207-61444208	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78916541	chr8:61444212-61444213	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549184152	chr8:61444225-61444226	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189185014	chr8:61444244-61444245	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114109300	chr8:61444262-61444263	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538074626	chr8:61444267-61444268	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs674690	chr8:61444289-61444290	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554815710	chr8:61444291-61444292	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557337240	chr8:61444296-61444297	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200781027	chr8:61444337-61444338	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11320293	chr8:61444358-61444359	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs397803053	chr8:61444378-61444379	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147085422	chr8:61444384-61444385	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369446357	chr8:61444403-61444404	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571311048	chr8:61444418-61444419	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538912736	chr8:61444436-61444437	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547705725	chr8:61444448-61444449	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565913793	chr8:61444478-61444479	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573920554	chr8:61444486-61444487	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536886480	chr8:61444493-61444494	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555162241	chr8:61444497-61444498	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112785252	chr8:61444508-61444509	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373171024	chr8:61444518-61444519	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556157505	chr8:61444556-61444557	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577726176	chr8:61444584-61444585	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs118012477	chr8:61444654-61444655	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560472125	chr8:61444734-61444735	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35460740	chr8:61444759-61444760	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs73257499	chr8:61444829-61444830	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs144047292	chr8:61444848-61444849	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542846612	chr8:61444937-61444938	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561222549	chr8:61444970-61444971	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7018346	chr8:61444978-61444979	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549878559	chr8:61444992-61444993	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144237259	chr8:61445048-61445049	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79680848	chr8:61445085-61445086	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs13276831	chr8:61445098-61445099	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:95)

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
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
Multiple myeloma	16461302	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61431800-61446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:61432600-61446600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:61432800-61444000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr8:61433800-61446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
6	chr8:61434000-61447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:61434600-61467600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
9	chr8:61434800-61445000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:61434800-61446000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:61434800-61446600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:61434800-61452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:61434800-61458000	Weak transcription	Dnd41	blood
14	chr8:61434800-61480600	Weak transcription	HMEC	breast
15	chr8:61435400-61445800	Weak transcription	Fetal Intestine Large	intestine
16	chr8:61435400-61470800	Weak transcription	NHEK	skin
17	chr8:61435400-61471800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:61435600-61446600	Weak transcription	A549	lung
19	chr8:61436800-61446600	Weak transcription	Hela-S3	cervix
20	chr8:61436800-61447000	Weak transcription	HepG2	liver
21	chr8:61437000-61445200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:61437000-61450200	Weak transcription	Fetal Stomach	stomach
23	chr8:61437200-61444400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:61437200-61462600	Weak transcription	NH-A	brain
25	chr8:61437400-61447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:61437400-61463200	Weak transcription	HSMM	muscle
27	chr8:61437600-61446800	Weak transcription	NHDF-Ad	bronchial
28	chr8:61437600-61451000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:61437800-61446800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:61437800-61447000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:61438000-61445000	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:61438000-61446800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:61438000-61449800	Weak transcription	Aorta	Aorta
34	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
35	chr8:61438200-61445000	Weak transcription	Brain Germinal Matrix	brain
36	chr8:61438200-61446600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:61438200-61450800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:61438400-61446600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:61438400-61469600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:61438800-61444200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr8:61439000-61453000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:61439400-61455800	Weak transcription	Fetal Thymus	thymus
43	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:61439600-61448800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:61440000-61449800	Weak transcription	Esophagus	oesophagus
46	chr8:61440200-61444000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:61440200-61444400	Weak transcription	Fetal Intestine Small	intestine
48	chr8:61440200-61444600	Weak transcription	Pancreas	Pancrea
49	chr8:61440200-61445200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:61440200-61446600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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