Variant report

Variant	nsv967538
Chromosome Location	chr8:105636174-105637487
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105636847..105638621-chr8:105657316..105660053,2	K562	blood:
2	chr8:105633597..105636250-chr8:105676084..105679408,5	K562	blood:
3	chr8:105598989..105604538-chr8:105634527..105638518,5	K562	blood:
4	chr8:105636072..105638004-chr8:105641993..105643753,2	K562	blood:
5	chr8:105599846..105602604-chr8:105634861..105636951,3	K562	blood:
6	chr8:105627700..105631260-chr8:105632105..105636974,7	K562	blood:

Variant related genes	Relation type
ENSG00000253350	chromatin interactions
ENSG00000147650	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16871604	chr8:105636179-105636180	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138898514	chr8:105636265-105636266	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs117582595	chr8:105636266-105636267	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs62510143	chr8:105636351-105636352	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377498843	chr8:105636363-105636364	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531155951	chr8:105636372-105636373	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549286367	chr8:105636384-105636385	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192861151	chr8:105636395-105636396	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35137884	chr8:105636436-105636437	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184714454	chr8:105636443-105636444	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs199947585	chr8:105636468-105636469	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528749916	chr8:105636478-105636479	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs7465442	chr8:105636501-105636502	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570922803	chr8:105636530-105636531	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs545378848	chr8:105636552-105636553	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs538223639	chr8:105636556-105636557	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs369437929	chr8:105636573-105636574	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs557044964	chr8:105636581-105636582	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs373475753	chr8:105636615-105636616	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs188646359	chr8:105636617-105636618	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs181121364	chr8:105636653-105636654	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs2918071	chr8:105636678-105636679	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs199857430	chr8:105636700-105636701	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544932789	chr8:105636704-105636705	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs140561152	chr8:105636711-105636712	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs573222535	chr8:105636726-105636727	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs184184089	chr8:105636808-105636809	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558850289	chr8:105636817-105636818	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112880200	chr8:105636861-105636862	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs73297186	chr8:105636864-105636865	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189059141	chr8:105636874-105636875	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs147087630	chr8:105636909-105636910	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs377331570	chr8:105636929-105636930	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs114267647	chr8:105636943-105636944	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370916803	chr8:105636974-105636975	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs575631204	chr8:105636989-105636990	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs144082092	chr8:105637012-105637013	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561141213	chr8:105637038-105637039	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528624203	chr8:105637094-105637095	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs546906798	chr8:105637246-105637247	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs565213289	chr8:105637254-105637255	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532163238	chr8:105637273-105637274	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs550291667	chr8:105637291-105637292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs147250113	chr8:105637300-105637301	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs148710406	chr8:105637301-105637302	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs577844970	chr8:105637328-105637329	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs180967324	chr8:105637342-105637343	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs566680751	chr8:105637381-105637382	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs187123440	chr8:105637397-105637398	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374515660	chr8:105637435-105637436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
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
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
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
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105634000-105636400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:105634200-105636400	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:105634400-105636800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:105635400-105636800	Enhancers	Fetal Thymus	thymus
5	chr8:105635600-105636600	Enhancers	Thymus	Thymus
6	chr8:105635800-105636400	Enhancers	GM12878-XiMat	blood
7	chr8:105635800-105636600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:105635800-105636600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:105635800-105637000	Enhancers	Dnd41	blood
10	chr8:105636000-105636800	Weak transcription	K562	blood
11	chr8:105636800-105637000	ZNF genes & repeats	K562	blood
12	chr8:105636800-105644000	Weak transcription	Fetal Thymus	thymus
13	chr8:105637000-105640600	Weak transcription	Dnd41	blood

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