Variant report

Variant	esv1825819
Chromosome Location	chr8:108495057-108506185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108500515..108503478-chr8:108505765..108508239,2	K562	blood:

Variant related genes	Relation type
ENSG00000154188	chromatin interactions

Extended variants
information (count: 385 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10505108	chr8:108495057-108495058	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371143405	chr8:108495067-108495068	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148348412	chr8:108495093-108495094	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575783402	chr8:108495155-108495156	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148239841	chr8:108495171-108495172	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112238690	chr8:108495255-108495256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs956619	chr8:108495264-108495265	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186830294	chr8:108495276-108495277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561602668	chr8:108495284-108495285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374453641	chr8:108495316-108495317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540789295	chr8:108495328-108495329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534094975	chr8:108495349-108495350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530297924	chr8:108495379-108495380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141267440	chr8:108495382-108495383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558878915	chr8:108495466-108495467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554349585	chr8:108495489-108495490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150359058	chr8:108495517-108495518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191302204	chr8:108495553-108495554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571289630	chr8:108495556-108495557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16876348	chr8:108495606-108495607	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114624218	chr8:108495622-108495623	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs567468694	chr8:108495671-108495672	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370285253	chr8:108495674-108495675	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs185649769	chr8:108495698-108495699	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536509018	chr8:108495702-108495703	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553306168	chr8:108495707-108495708	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs368364545	chr8:108495718-108495719	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200718926	chr8:108495790-108495791	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539074712	chr8:108495795-108495796	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558991021	chr8:108495832-108495833	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs139666842	chr8:108495842-108495843	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115097713	chr8:108495885-108495886	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs137925373	chr8:108495901-108495902	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544711457	chr8:108495948-108495949	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs561287807	chr8:108495960-108495961	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs10102033	chr8:108495974-108495975	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540524006	chr8:108495999-108496000	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs560455360	chr8:108496042-108496043	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528062458	chr8:108496079-108496080	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs190538175	chr8:108496142-108496143	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564917317	chr8:108496188-108496189	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs530488376	chr8:108496229-108496230	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576388490	chr8:108496247-108496248	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs550660145	chr8:108496326-108496327	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs145936573	chr8:108496331-108496332	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs536496853	chr8:108496413-108496414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77992804	chr8:108496454-108496455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117327952	chr8:108496499-108496500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565420260	chr8:108496516-108496517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539010731	chr8:108496549-108496550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108482800-108495600	Weak transcription	Fetal Lung	lung
2	chr8:108489400-108496600	Weak transcription	Ovary	ovary
3	chr8:108489800-108497000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:108492400-108496800	Weak transcription	Psoas Muscle	Psoas
5	chr8:108492600-108497600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:108492800-108498200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:108493000-108498400	Weak transcription	NHDF-Ad	bronchial
8	chr8:108493200-108497600	Weak transcription	Osteobl	bone
9	chr8:108493600-108496800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:108494000-108495200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:108494600-108495800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr8:108494800-108495200	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:108494800-108495400	Weak transcription	Left Ventricle	heart
14	chr8:108494800-108497200	Weak transcription	NHLF	lung
15	chr8:108494800-108497400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:108494800-108497400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:108494800-108497800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:108494800-108502000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:108495000-108495600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:108495000-108497400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:108495000-108497600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:108495200-108495400	Enhancers	Colon Smooth Muscle	Colon
23	chr8:108495200-108497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:108495400-108495800	Enhancers	Rectal Smooth Muscle	rectum
25	chr8:108495400-108497000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:108495600-108496400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:108495600-108496400	Enhancers	Fetal Lung	lung
28	chr8:108495600-108497400	Weak transcription	Right Atrium	heart
29	chr8:108495800-108496800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:108495800-108497600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:108496200-108497400	Enhancers	Stomach Smooth Muscle	stomach
32	chr8:108496400-108497200	Weak transcription	Fetal Lung	lung
33	chr8:108496400-108497400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:108496400-108497400	Enhancers	HUVEC	blood vessel
35	chr8:108496600-108497600	Enhancers	Spleen	Spleen
36	chr8:108496600-108499600	Enhancers	Ovary	ovary
37	chr8:108496800-108497400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr8:108496800-108497600	Enhancers	Primary hematopoietic stem cells	blood
39	chr8:108496800-108497600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr8:108496800-108497800	Enhancers	Left Ventricle	heart
41	chr8:108496800-108499000	Enhancers	Adipose Nuclei	Adipose
42	chr8:108496800-108499400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:108496800-108499400	Enhancers	Psoas Muscle	Psoas
44	chr8:108497000-108497400	Enhancers	Colon Smooth Muscle	Colon
45	chr8:108497000-108501200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:108497000-108503600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:108497200-108497600	Enhancers	Brain Hippocampus Middle	brain
48	chr8:108497200-108497800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr8:108497200-108497800	Enhancers	NHLF	lung
50	chr8:108497200-108499400	Enhancers	Fetal Kidney	kidney

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