Variant report

Variant	esv1829037
Chromosome Location	chr8:1776235-1800596
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:1792966..1795761-chr8:1797297..1800005,2	MCF-7	breast:
2	chr8:1790802..1792919-chr8:1794714..1797248,2	K562	blood:
3	chr8:1771136..1772958-chr8:1777807..1779958,2	K562	blood:
4	chr8:1791902..1794095-chr8:1800796..1802523,2	K562	blood:
5	chr8:1772602..1774106-chr8:1775619..1777566,2	K562	blood:
6	chr8:1703592..1705221-chr8:1778659..1781628,2	MCF-7	breast:
7	chr19:39574470..39577467-chr8:1791052..1792928,2	MCF-7	breast:
8	chr8:1790802..1792919-chr8:1794714..1797248,2	K562	blood:
9	chr8:1791902..1793927-chr8:1800796..1802494,2	K562	blood:
10	chr8:1784051..1785744-chr8:1790168..1791878,2	MCF-7	breast:
11	chr8:1778222..1780570-chr8:1782075..1784994,4	MCF-7	breast:
12	chr8:1770355..1772056-chr8:1783670..1785482,2	MCF-7	breast:
13	chr8:1778222..1780570-chr8:1782075..1784994,4	MCF-7	breast:
14	chr8:1792966..1795761-chr8:1797297..1800005,2	MCF-7	breast:
15	chr8:1770343..1774803-chr8:1776185..1779512,9	MCF-7	breast:
16	chr8:1731431..1734296-chr8:1777100..1779564,2	MCF-7	breast:
17	chr8:1784051..1785744-chr8:1790168..1791878,2	MCF-7	breast:
18	chr8:1710415..1713375-chr8:1784468..1786850,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104728	chromatin interactions
ENSG00000183760	chromatin interactions
ENSG00000182372	chromatin interactions
ENSG00000253982	chromatin interactions

Extended variants
information (count: 1708 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:1708 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531268142	chr8:1776249-1776250	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551160649	chr8:1776258-1776259	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534606387	chr8:1776264-1776265	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78747592	chr8:1776272-1776273	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs56040809	chr8:1776312-1776313	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114517333	chr8:1776352-1776353	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150691062	chr8:1776362-1776363	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs17829485	chr8:1776364-1776365	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs56817920	chr8:1776376-1776377	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370360791	chr8:1776380-1776381	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373298594	chr8:1776404-1776405	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576562581	chr8:1776406-1776407	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189272369	chr8:1776422-1776423	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs180947304	chr8:1776520-1776521	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557480241	chr8:1776554-1776555	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs77368753	chr8:1776555-1776556	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140181445	chr8:1776556-1776557	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185816875	chr8:1776559-1776560	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559587514	chr8:1776568-1776569	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61508488	chr8:1776573-1776574	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111751894	chr8:1776596-1776597	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190964427	chr8:1776600-1776601	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541844242	chr8:1776601-1776602	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562129821	chr8:1776619-1776620	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs79051224	chr8:1776621-1776622	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs55794421	chr8:1776642-1776643	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531203744	chr8:1776648-1776649	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs58101207	chr8:1776653-1776654	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146858788	chr8:1776660-1776661	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375099258	chr8:1776663-1776664	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533558604	chr8:1776680-1776681	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547221123	chr8:1776687-1776688	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566427506	chr8:1776690-1776691	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535551283	chr8:1776694-1776695	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540639422	chr8:1776701-1776702	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs60268081	chr8:1776706-1776707	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111361934	chr8:1776709-1776710	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555032718	chr8:1776710-1776711	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371329788	chr8:1776711-1776712	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs4475535	chr8:1776739-1776740	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557620671	chr8:1776740-1776741	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183113614	chr8:1776745-1776746	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs59839532	chr8:1776755-1776756	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs58480814	chr8:1776757-1776758	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540030779	chr8:1776778-1776779	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs58806426	chr8:1776785-1776786	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs6998592	chr8:1776791-1776792	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs57067770	chr8:1776795-1776796	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs5888904	chr8:1776802-1776803	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs57722716	chr8:1776804-1776805	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
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
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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:1127 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1772800-1780000	Weak transcription	Hela-S3	cervix
2	chr8:1772800-1789400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:1772800-1790800	Weak transcription	HSMMtube	muscle
4	chr8:1772800-1791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:1773000-1778200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:1773400-1776400	Enhancers	Left Ventricle	heart
7	chr8:1773600-1776400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:1773600-1777400	Enhancers	HMEC	breast
9	chr8:1773800-1777400	Weak transcription	NHLF	lung
10	chr8:1773800-1780400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:1773800-1780800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:1774000-1776400	Enhancers	Right Ventricle	heart
13	chr8:1774000-1777000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:1774000-1777600	Weak transcription	A549	lung
15	chr8:1774000-1781600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:1774000-1789200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:1774000-1845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:1774200-1777200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:1774400-1776400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:1774400-1777000	Weak transcription	Osteobl	bone
21	chr8:1774400-1777200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:1774600-1777200	Weak transcription	K562	blood
23	chr8:1774600-1790200	Weak transcription	Colonic Mucosa	Colon
24	chr8:1774800-1776400	Enhancers	Brain Hippocampus Middle	brain
25	chr8:1774800-1776400	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr8:1774800-1777200	Enhancers	NH-A	brain
27	chr8:1774800-1777400	Weak transcription	Aorta	Aorta
28	chr8:1774800-1777400	Enhancers	NHEK	skin
29	chr8:1774800-1777600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:1774800-1780400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:1774800-1783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:1774800-1786000	Weak transcription	NHDF-Ad	bronchial
33	chr8:1775000-1776400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:1775000-1777200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:1775000-1777200	Weak transcription	Lung	lung
36	chr8:1775000-1777400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:1775000-1777400	Weak transcription	Brain Anterior Caudate	brain
38	chr8:1775000-1777400	Weak transcription	Fetal Heart	heart
39	chr8:1775000-1777600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:1775000-1777800	Genic enhancers	H1 Cell Line	embryonic stem cell
41	chr8:1775000-1782200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:1775000-1782400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:1775000-1788800	Weak transcription	Fetal Brain Female	brain
44	chr8:1775000-1790400	Weak transcription	Brain Germinal Matrix	brain
45	chr8:1775200-1777400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:1775200-1777600	Weak transcription	Brain Angular Gyrus	brain
47	chr8:1775200-1792400	Weak transcription	Fetal Lung	lung
48	chr8:1775400-1776400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:1775400-1776600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:1775400-1777000	Weak transcription	Fetal Stomach	stomach

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