Variant report

Variant	esv3480673
Chromosome Location	chr8:1785845-1790143
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	chr8:1710415..1713375-chr8:1784468..1786850,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182372	chromatin interactions
ENSG00000253982	chromatin interactions

Extended variants
information (count: 337 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371951054	chr8:1785845-1785846	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs61308353	chr8:1785848-1785849	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116136184	chr8:1785861-1785862	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs549852205	chr8:1785879-1785880	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191255451	chr8:1785890-1785891	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371665042	chr8:1785893-1785894	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs11990890	chr8:1785901-1785902	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569171354	chr8:1785905-1785906	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538268429	chr8:1785916-1785917	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558165478	chr8:1785934-1785935	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs184015465	chr8:1785952-1785953	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs149669597	chr8:1785962-1785963	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553949477	chr8:1785974-1785975	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573374564	chr8:1785985-1785986	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542374440	chr8:1785999-1786000	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562638913	chr8:1786003-1786004	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs74939507	chr8:1786008-1786009	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs11990922	chr8:1786021-1786022	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565167966	chr8:1786082-1786083	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs527593441	chr8:1786087-1786088	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566980396	chr8:1786157-1786158	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs547565640	chr8:1786205-1786206	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs144577402	chr8:1786209-1786210	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs571130153	chr8:1786221-1786222	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs538940440	chr8:1786258-1786259	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549191929	chr8:1786290-1786291	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs549132654	chr8:1786299-1786300	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567630632	chr8:1786318-1786319	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs189656441	chr8:1786331-1786332	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551373189	chr8:1786332-1786333	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs571564224	chr8:1786333-1786334	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs11986580	chr8:1786342-1786343	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148494513	chr8:1786356-1786357	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536878746	chr8:1786364-1786365	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs117964556	chr8:1786365-1786366	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs144092920	chr8:1786374-1786375	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544637605	chr8:1786375-1786376	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs558587703	chr8:1786379-1786380	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572340211	chr8:1786384-1786385	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs541350899	chr8:1786413-1786414	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs561199537	chr8:1786414-1786415	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs79760674	chr8:1786425-1786426	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146497109	chr8:1786445-1786446	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs557233333	chr8:1786457-1786458	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs75403599	chr8:1786460-1786461	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs78059594	chr8:1786464-1786465	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559803458	chr8:1786520-1786521	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs551334361	chr8:1786530-1786531	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs79224913	chr8:1786531-1786532	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs527716059	chr8:1786568-1786569	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 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:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1772800-1789400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:1772800-1790800	Weak transcription	HSMMtube	muscle
3	chr8:1772800-1791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:1774000-1789200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:1774000-1845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:1774600-1790200	Weak transcription	Colonic Mucosa	Colon
7	chr8:1774800-1786000	Weak transcription	NHDF-Ad	bronchial
8	chr8:1775000-1788800	Weak transcription	Fetal Brain Female	brain
9	chr8:1775000-1790400	Weak transcription	Brain Germinal Matrix	brain
10	chr8:1775200-1792400	Weak transcription	Fetal Lung	lung
11	chr8:1778000-1786200	Weak transcription	Fetal Heart	heart
12	chr8:1778200-1786400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:1778400-1790400	Weak transcription	Osteobl	bone
14	chr8:1778600-1790400	Weak transcription	HUVEC	blood vessel
15	chr8:1779200-1788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:1779200-1790400	Weak transcription	NH-A	brain
17	chr8:1780200-1786600	Weak transcription	Right Atrium	heart
18	chr8:1780200-1790800	Weak transcription	HSMM	muscle
19	chr8:1780400-1786400	Weak transcription	Left Ventricle	heart
20	chr8:1780400-1790400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:1780400-1790400	Weak transcription	NHEK	skin
22	chr8:1780600-1790400	Weak transcription	Esophagus	oesophagus
23	chr8:1780600-1792600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:1780600-1808800	Weak transcription	Hela-S3	cervix
25	chr8:1782000-1787000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:1782000-1787200	Strong transcription	Fetal Stomach	stomach
27	chr8:1782200-1787200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:1783000-1788800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:1783400-1791600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:1783600-1786800	Enhancers	Brain Angular Gyrus	brain
31	chr8:1783600-1787600	Enhancers	Brain Substantia Nigra	brain
32	chr8:1783600-1792200	Weak transcription	Fetal Intestine Small	intestine
33	chr8:1783800-1787200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:1783800-1787600	Enhancers	Brain Hippocampus Middle	brain
35	chr8:1783800-1790200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:1783800-1792200	Weak transcription	Placenta	Placenta
37	chr8:1784000-1786200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:1784000-1786400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:1784000-1787400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:1784000-1787800	Enhancers	Brain Cingulate Gyrus	brain
41	chr8:1784000-1788600	Weak transcription	Gastric	stomach
42	chr8:1784000-1788800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:1784000-1788800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:1784000-1789200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:1784000-1789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:1784000-1789600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:1784000-1789600	Weak transcription	Adipose Nuclei	Adipose
48	chr8:1784000-1790400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:1784000-1790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:1784000-1791000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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