Variant report

Variant	esv3325026
Chromosome Location	chr8:90710355-90713203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90707734..90710584-chr8:90712902..90714410,2	K562	blood:
2	chr1:45195328..45196974-chr8:90708817..90711214,2	MCF-7	breast:
3	chr8:90707734..90710584-chr8:90712902..90714410,2	K562	blood:

Variant related genes	Relation type
ENSG00000200169	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs28656871	chr8:90710360-90710361	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147100408	chr8:90710364-90710365	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556009973	chr8:90710369-90710370	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188776319	chr8:90710371-90710372	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs58918898	chr8:90710397-90710398	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs200602022	chr8:90710398-90710399	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs61212673	chr8:90710466-90710467	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181883647	chr8:90710470-90710471	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs419004	chr8:90710503-90710504	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572252806	chr8:90710524-90710525	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552884918	chr8:90710533-90710534	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs61629526	chr8:90710547-90710548	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534898698	chr8:90710574-90710575	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553478486	chr8:90710585-90710586	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs62532112	chr8:90710601-90710602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186439269	chr8:90710611-90710612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556952034	chr8:90710629-90710630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575205111	chr8:90710631-90710632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs62532113	chr8:90710643-90710644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs62532114	chr8:90710645-90710646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558412674	chr8:90710657-90710658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs62532115	chr8:90710658-90710659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576074762	chr8:90710665-90710666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576666800	chr8:90710668-90710669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540862396	chr8:90710674-90710675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs62532116	chr8:90710686-90710687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371282	chr8:90710717-90710718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529770887	chr8:90710742-90710743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541882320	chr8:90710786-90710787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543465541	chr8:90710789-90710790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530504685	chr8:90710792-90710793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552946412	chr8:90710801-90710802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571158058	chr8:90710818-90710819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528736413	chr8:90710820-90710821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113118106	chr8:90710821-90710822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568605078	chr8:90710842-90710843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535596079	chr8:90710859-90710860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557013244	chr8:90710868-90710869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112724334	chr8:90710899-90710900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539436252	chr8:90710913-90710914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200055441	chr8:90710938-90710939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558466336	chr8:90710951-90710952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185854067	chr8:90710952-90710953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541287652	chr8:90710957-90710958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371889882	chr8:90710961-90710962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574555101	chr8:90710975-90710976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9773458	chr8:90711028-90711029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182815974	chr8:90711034-90711035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187530144	chr8:90711057-90711058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200902865	chr8:90711073-90711074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
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
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
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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90693200-90715600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:90709000-90720200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:90709800-90710600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:90710000-90716200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:90710000-90730000	Weak transcription	HSMMtube	muscle
6	chr8:90710200-90715800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:90710200-90716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:90710200-90729600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:90710200-90730400	Weak transcription	A549	lung
10	chr8:90710200-90731200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:90710200-90736200	Weak transcription	Adipose Nuclei	Adipose
12	chr8:90710600-90715800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:90711200-90715400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:90711200-90733800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:90711400-90712800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:90711400-90720200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:90712200-90713000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:90712200-90715600	Weak transcription	Aorta	Aorta
19	chr8:90712400-90712800	Enhancers	K562	blood
20	chr8:90712600-90713200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:90712800-90713200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:90712800-90713200	Enhancers	Spleen	Spleen
23	chr8:90712800-90713400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:90713000-90713200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:90713000-90713200	Enhancers	Left Ventricle	heart
26	chr8:90713200-90713400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:90713200-90714200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:90713200-90715400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:90713200-90716400	Weak transcription	Spleen	Spleen
30	chr8:90713200-90717600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart

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