Variant report

Variant	nsv891055
Chromosome Location	chr8:79110386-79256864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:79115332..79117727-chr8:79126761..79129433,2	MCF-7	breast:
2	chr8:79167734..79169707-chr8:79223707..79226271,2	K562	blood:
3	chr8:79144521..79146483-chr8:79148036..79149918,2	MCF-7	breast:
4	chr6:73271217..73271941-chr8:79148736..79149236,2	K562	blood:
5	chr8:79237975..79240917-chr8:79241264..79244249,2	K562	blood:
6	chr8:79156655..79159520-chr8:79164294..79166738,2	MCF-7	breast:
7	chr8:79104657..79107348-chr8:79109253..79112104,2	K562	blood:
8	chr8:78512754..78513523-chr8:79163081..79163614,2	MCF-7	breast:
9	chr17:59489020..59490535-chr8:79157298..79160276,2	MCF-7	breast:
10	chr8:79163088..79164809-chr8:79169880..79172153,2	K562	blood:
11	chr8:79167734..79169707-chr8:79223707..79226271,2	K562	blood:
12	chr8:79156655..79159520-chr8:79164294..79166738,2	MCF-7	breast:
13	chr8:79144521..79146483-chr8:79148036..79149918,2	MCF-7	breast:
14	chr8:79163088..79164809-chr8:79169880..79172153,2	K562	blood:
15	chr8:79115332..79117727-chr8:79126761..79129433,2	MCF-7	breast:
16	chr8:78518144..78519144-chr8:79144271..79145233,9	MCF-7	breast:
17	chr8:79162917..79163612-chr8:79343717..79344374,3	MCF-7	breast:
18	chr8:79237975..79240917-chr8:79241264..79244249,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187013	chromatin interactions

Extended variants
information (count: 2363 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2363 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10504664	chr8:79110386-79110387	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541754731	chr8:79110396-79110397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374325981	chr8:79110397-79110398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370290803	chr8:79110406-79110407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548186009	chr8:79110411-79110412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554078389	chr8:79110424-79110425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116758190	chr8:79110449-79110450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187037628	chr8:79110556-79110557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563758826	chr8:79110558-79110559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531269741	chr8:79110564-79110565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145401006	chr8:79110570-79110571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562915599	chr8:79110574-79110575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199892316	chr8:79110634-79110635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5892645	chr8:79110637-79110638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74728090	chr8:79110649-79110650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398008465	chr8:79110650-79110651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569525647	chr8:79110659-79110660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11994783	chr8:79110702-79110703	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537348271	chr8:79110707-79110708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548591512	chr8:79110784-79110785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373693018	chr8:79110833-79110834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527992747	chr8:79110863-79110864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552571497	chr8:79110945-79110946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114663349	chr8:79110946-79110947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71573222	chr8:79110957-79110958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542747786	chr8:79110965-79110966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538320283	chr8:79110987-79110988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531044210	chr8:79111016-79111017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550296378	chr8:79111018-79111019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568156156	chr8:79111123-79111124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202218742	chr8:79111134-79111135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7000719	chr8:79111153-79111154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553691196	chr8:79111161-79111162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138882359	chr8:79111170-79111171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562863348	chr8:79111186-79111187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557313830	chr8:79111209-79111210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149367417	chr8:79111315-79111316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7000907	chr8:79111332-79111333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117888649	chr8:79111394-79111395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573662925	chr8:79111398-79111399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190930742	chr8:79111412-79111413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560688534	chr8:79111437-79111438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527975451	chr8:79111516-79111517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183387024	chr8:79111521-79111522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564470379	chr8:79111522-79111523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143674373	chr8:79111528-79111529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549919723	chr8:79111562-79111563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148080736	chr8:79111571-79111572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530075734	chr8:79111590-79111591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375992608	chr8:79111714-79111715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:79108200-79113000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:79109200-79110400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:79109400-79110800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:79109400-79111000	Enhancers	HSMM	muscle
5	chr8:79109400-79111400	Enhancers	Osteobl	bone
6	chr8:79109400-79112800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:79109400-79113000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:79109400-79113200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:79109400-79113200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr8:79110000-79111200	Weak transcription	Hela-S3	cervix
11	chr8:79110000-79112000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:79110000-79112000	Weak transcription	HMEC	breast
13	chr8:79110400-79112200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:79110800-79112400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:79111200-79112400	Enhancers	Hela-S3	cervix
16	chr8:79111400-79111800	Weak transcription	Osteobl	bone
17	chr8:79111800-79112800	Enhancers	Osteobl	bone
18	chr8:79112000-79112400	Enhancers	HMEC	breast
19	chr8:79112000-79112600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:79112200-79112600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:79112400-79112600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:79112400-79120400	Weak transcription	Hela-S3	cervix
23	chr8:79112600-79113200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:79112600-79119000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:79112800-79118600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:79112800-79120000	Weak transcription	Osteobl	bone
27	chr8:79113000-79119800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:79113200-79118400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:79113200-79118600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:79117400-79117600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr8:79117400-79117600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:79117400-79118800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:79117400-79122600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr8:79117600-79118600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:79117600-79122600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:79117800-79119600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:79117800-79122400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:79118000-79118800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:79118000-79119600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:79118400-79119200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:79118400-79123800	Enhancers	NHEK	skin
42	chr8:79118600-79119600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr8:79118600-79120800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr8:79118600-79124800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:79118800-79119000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:79118800-79119200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr8:79118800-79119400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr8:79118800-79123600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:79118800-79124600	Enhancers	HMEC	breast
50	chr8:79119000-79119200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links