Variant report

Variant	nsv517866
Chromosome Location	chr8:79219295-79257349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:79237975..79240917-chr8:79241264..79244249,2	K562	blood:
2	chr8:79167734..79169707-chr8:79223707..79226271,2	K562	blood:
3	chr8:79237975..79240917-chr8:79241264..79244249,2	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs529810644	chr8:79219429-79219430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541515892	chr8:79219458-79219459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375149184	chr8:79219461-79219462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560192314	chr8:79219469-79219470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528704853	chr8:79219519-79219520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546778031	chr8:79219559-79219560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186641189	chr8:79251208-79251209	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs566567966	chr8:79251209-79251210	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs149230391	chr8:79251249-79251250	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556361408	chr8:79251310-79251311	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558224087	chr8:79251337-79251338	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145838979	chr8:79251444-79251445	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571545202	chr8:79251470-79251471	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191393304	chr8:79251479-79251480	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs184826604	chr8:79251487-79251488	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575816057	chr8:79251493-79251494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146904762	chr8:79251494-79251495	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs139314567	chr8:79251522-79251523	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs377540716	chr8:79251539-79251540	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540764944	chr8:79251612-79251613	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs189647772	chr8:79251647-79251648	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs11781889	chr8:79251653-79251654	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12114391	chr8:79251661-79251662	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562807888	chr8:79251667-79251668	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529902701	chr8:79251695-79251696	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs545117275	chr8:79251701-79251702	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs193056939	chr8:79251702-79251703	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548463428	chr8:79251766-79251767	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs534737084	chr8:79251792-79251793	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566388709	chr8:79251808-79251809	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs143237184	chr8:79251849-79251850	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs147083291	chr8:79251857-79251858	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570185792	chr8:79251880-79251881	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs79347392	chr8:79251926-79251927	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs559988606	chr8:79251987-79251988	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs79936278	chr8:79252019-79252020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569428947	chr8:79252032-79252033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572047914	chr8:79252033-79252034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368431030	chr8:79252072-79252073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542217189	chr8:79252079-79252080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536582834	chr8:79252104-79252105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555227903	chr8:79252126-79252127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539468776	chr8:79252129-79252130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141677594	chr8:79252153-79252154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540600756	chr8:79252172-79252173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559106907	chr8:79252216-79252217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78668434	chr8:79252230-79252231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150522322	chr8:79252242-79252243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11989254	chr8:79252302-79252303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529891665	chr8:79252304-79252305	Weak transcription	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:79219400-79219600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:79251200-79251800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:79251400-79251600	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr8:79251600-79251800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr8:79251600-79252000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:79251600-79252000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:79251600-79252200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr8:79251800-79252000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:79251800-79252000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:79252000-79253600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:79252000-79255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:79253400-79254000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:79253400-79254200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:79253600-79253800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr8:79253600-79254000	Bivalent Enhancer	HMEC	breast
16	chr8:79253600-79254000	Enhancers	NHEK	skin
17	chr8:79253600-79254200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:79254200-79255800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:79255600-79256000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:79255600-79256000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:79255600-79256000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:79255600-79256200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:79255600-79256200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:79255600-79256200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:79255600-79256200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:79255600-79256200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:79255800-79256000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:79255800-79256200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:79255800-79256200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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