Variant report

Variant	esv1799312
Chromosome Location	chr8:6608072-6627598
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6599982..6602486-chr8:6610540..6612172,2	K562	blood:
2	chr8:6607794..6615120-chr8:6615384..6621792,7	K562	blood:
3	chr8:6568779..6571640-chr8:6612352..6615052,2	K562	blood:
4	chr8:6611127..6614111-chr8:6622558..6624874,3	K562	blood:
5	chr8:6606705..6609597-chr8:6613259..6614827,2	MCF-7	breast:
6	chr8:6589795..6592287-chr8:6621682..6624107,2	K562	blood:
7	chr8:6476060..6478996-chr8:6610038..6612877,2	K562	blood:
8	chr8:6545858..6548126-chr8:6615946..6617987,2	K562	blood:
9	chr8:6564666..6566173-chr8:6622991..6625283,2	K562	blood:
10	chr8:6606705..6609597-chr8:6613259..6614827,2	MCF-7	breast:
11	chr8:6592860..6594827-chr8:6613486..6615924,2	K562	blood:
12	chr8:6606644..6610344-chr8:6611897..6613643,3	K562	blood:
13	chr8:6611127..6614111-chr8:6622558..6624874,3	K562	blood:
14	chr8:6617970..6622981-chr8:6623153..6625903,4	K562	blood:
15	chr8:6615680..6618356-chr8:6619972..6621517,2	K562	blood:
16	chr8:6615680..6618356-chr8:6619972..6621517,2	K562	blood:
17	chr8:6566568..6569324-chr8:6619809..6622501,2	K562	blood:
18	chr8:6606644..6610344-chr8:6611897..6613643,3	K562	blood:
19	chr8:6607794..6609928-chr8:6615547..6617505,2	K562	blood:
20	chr8:6623587..6625144-chr8:6629671..6632414,2	MCF-7	breast:
21	chr8:6607794..6615120-chr8:6615384..6621792,7	K562	blood:
22	chr8:6603115..6605029-chr8:6610230..6612047,3	K562	blood:
23	chr8:6566710..6569259-chr8:6614504..6616089,2	K562	blood:
24	chr8:6617970..6622981-chr8:6623153..6625903,4	K562	blood:
25	chr8:6566350..6569285-chr8:6617437..6619402,3	K562	blood:
26	chr8:6620981..6623337-chr8:6643154..6645931,2	K562	blood:
27	chr8:6264061..6265745-chr8:6605716..6608202,2	K562	blood:
28	chr8:6602850..6605858-chr8:6622259..6624724,3	K562	blood:
29	chr8:6565954..6567962-chr8:6615046..6617688,2	MCF-7	breast:
30	chr8:6607794..6609928-chr8:6615547..6617505,2	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	AGPAT5	hsa-miR-192-5p	chr8:6618563-6618583
2	AGPAT5	hsa-miR-15b-5p	chr8:6617093-6617116

Variant related genes	Relation type
ENSG00000155189	chromatin interactions
ENSG00000147316	chromatin interactions
ENSG00000246089	chromatin interactions
ENSG00000249898	chromatin interactions

Extended variants
information (count: 1098 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2936507	chr8:6608072-6608073	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576448200	chr8:6608074-6608075	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs188510358	chr8:6608111-6608112	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2928578	chr8:6608117-6608118	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138858936	chr8:6608164-6608165	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs4841654	chr8:6608166-6608167	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181578515	chr8:6608178-6608179	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201499286	chr8:6608199-6608200	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554783213	chr8:6608222-6608223	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34086600	chr8:6608245-6608246	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397829067	chr8:6608256-6608257	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397809110	chr8:6608257-6608258	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34435184	chr8:6608260-6608261	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142070710	chr8:6608314-6608315	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62497313	chr8:6608315-6608316	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10102003	chr8:6608325-6608326	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556841528	chr8:6608354-6608355	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144368182	chr8:6608396-6608397	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547978204	chr8:6608411-6608412	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112971868	chr8:6608421-6608422	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150726103	chr8:6608449-6608450	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186782467	chr8:6608469-6608470	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35176056	chr8:6608471-6608472	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192040651	chr8:6608472-6608473	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11995491	chr8:6608476-6608477	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539659955	chr8:6608497-6608498	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570111811	chr8:6608515-6608516	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78192285	chr8:6608521-6608522	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183925855	chr8:6608528-6608529	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148497085	chr8:6608529-6608530	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555568422	chr8:6608553-6608554	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142799219	chr8:6608563-6608564	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150588021	chr8:6608572-6608573	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76924824	chr8:6608579-6608580	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187143956	chr8:6608585-6608586	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368544432	chr8:6608599-6608600	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140648533	chr8:6608609-6608610	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376501434	chr8:6608684-6608685	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144389357	chr8:6608729-6608730	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574144777	chr8:6608771-6608772	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541919154	chr8:6608775-6608776	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572970069	chr8:6608783-6608784	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527306079	chr8:6608785-6608786	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189970314	chr8:6608811-6608812	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs36005821	chr8:6608816-6608817	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71525764	chr8:6608829-6608830	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182277963	chr8:6608857-6608858	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549803290	chr8:6608859-6608860	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569871715	chr8:6608892-6608893	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549627848	chr8:6608897-6608898	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6585800-6615800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:6587200-6617000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:6587800-6612000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:6587800-6617000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:6591000-6614200	Weak transcription	Left Ventricle	heart
6	chr8:6591000-6617400	Weak transcription	Psoas Muscle	Psoas
7	chr8:6591200-6614600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:6591200-6625400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:6591400-6618200	Weak transcription	NHDF-Ad	bronchial
10	chr8:6591400-6625000	Weak transcription	NH-A	brain
11	chr8:6591400-6633200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:6591600-6614200	Weak transcription	NHLF	lung
13	chr8:6591600-6616600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:6591600-6618200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:6592600-6625000	Weak transcription	Osteobl	bone
16	chr8:6593000-6622800	Weak transcription	Esophagus	oesophagus
17	chr8:6593400-6612200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:6594400-6617400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:6594400-6625200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:6595400-6629600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:6597800-6611600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:6597800-6616200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:6598000-6617000	Strong transcription	Dnd41	blood
24	chr8:6600600-6610800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:6601800-6608400	Enhancers	Stomach Mucosa	stomach
26	chr8:6602000-6611200	Strong transcription	Fetal Thymus	thymus
27	chr8:6602200-6616600	Strong transcription	Primary T cells from cord blood	blood
28	chr8:6602400-6616400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:6602400-6616800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:6602400-6619600	Weak transcription	Right Ventricle	heart
31	chr8:6602400-6620000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:6602600-6617600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:6602800-6612000	Strong transcription	Placenta	Placenta
34	chr8:6602800-6616600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:6603000-6609000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:6603000-6614200	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:6603800-6616400	Weak transcription	Colonic Mucosa	Colon
38	chr8:6603800-6616400	Weak transcription	Fetal Brain Male	brain
39	chr8:6603800-6616400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:6604400-6612400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:6604400-6616400	Weak transcription	Brain Anterior Caudate	brain
42	chr8:6604600-6611200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr8:6604600-6616200	Strong transcription	Fetal Muscle Leg	muscle
44	chr8:6604600-6616800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:6604600-6616800	Weak transcription	Adipose Nuclei	Adipose
46	chr8:6604800-6610600	Strong transcription	HSMM	muscle
47	chr8:6604800-6616000	Weak transcription	Fetal Kidney	kidney
48	chr8:6605000-6611000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:6605000-6617600	Weak transcription	Fetal Intestine Large	intestine
50	chr8:6605400-6616600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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