Variant report

Variant	esv3440022
Chromosome Location	chr8:1788970-1791518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1790802..1792919-chr8:1794714..1797248,2	K562	blood:
2	chr19:39574470..39577467-chr8:1791052..1792928,2	MCF-7	breast:
3	chr8:1784051..1785744-chr8:1790168..1791878,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183760	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs10092154	chr8:1789006-1789007	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188781756	chr8:1789023-1789024	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs547411290	chr8:1789028-1789029	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs551092785	chr8:1789045-1789046	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs570998243	chr8:1789072-1789073	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs539804402	chr8:1789078-1789079	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs553407830	chr8:1789085-1789086	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs529895507	chr8:1789107-1789108	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs535788554	chr8:1789114-1789115	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs556059041	chr8:1789121-1789122	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs575727285	chr8:1789123-1789124	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs73538786	chr8:1789170-1789171	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs192900561	chr8:1789171-1789172	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs183433965	chr8:1789187-1789188	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs386720691	chr8:1789188-1789189	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs10105984	chr8:1789190-1789191	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528920128	chr8:1789194-1789195	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs10105264	chr8:1789199-1789200	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73176758	chr8:1789212-1789213	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111885160	chr8:1789220-1789221	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531525840	chr8:1789234-1789235	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12114697	chr8:1789235-1789236	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10106097	chr8:1789254-1789255	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376854793	chr8:1789255-1789256	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539959488	chr8:1789257-1789258	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546981032	chr8:1789265-1789266	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187583647	chr8:1789267-1789268	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191284903	chr8:1789270-1789271	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555778547	chr8:1789286-1789287	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183517577	chr8:1789288-1789289	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538006854	chr8:1789295-1789296	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150257864	chr8:1789318-1789319	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565945053	chr8:1789326-1789327	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189637473	chr8:1789342-1789343	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11136430	chr8:1789357-1789358	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553862253	chr8:1789370-1789371	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573556168	chr8:1789376-1789377	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542650479	chr8:1789383-1789384	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192976580	chr8:1789394-1789395	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184654845	chr8:1789397-1789398	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138445742	chr8:1789400-1789401	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs201023493	chr8:1789429-1789430	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532840638	chr8:1789430-1789431	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201544287	chr8:1789433-1789434	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs201871508	chr8:1789434-1789435	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs536091662	chr8:1789445-1789446	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs149280743	chr8:1789449-1789450	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs35376664	chr8:1789454-1789455	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs143433996	chr8:1789468-1789469	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs190418678	chr8:1789481-1789482	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	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:222 , 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	chr8:1775000-1790400	Weak transcription	Brain Germinal Matrix	brain
8	chr8:1775200-1792400	Weak transcription	Fetal Lung	lung
9	chr8:1778400-1790400	Weak transcription	Osteobl	bone
10	chr8:1778600-1790400	Weak transcription	HUVEC	blood vessel
11	chr8:1779200-1790400	Weak transcription	NH-A	brain
12	chr8:1780200-1790800	Weak transcription	HSMM	muscle
13	chr8:1780400-1790400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:1780400-1790400	Weak transcription	NHEK	skin
15	chr8:1780600-1790400	Weak transcription	Esophagus	oesophagus
16	chr8:1780600-1792600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:1780600-1808800	Weak transcription	Hela-S3	cervix
18	chr8:1783400-1791600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:1783600-1792200	Weak transcription	Fetal Intestine Small	intestine
20	chr8:1783800-1790200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:1783800-1792200	Weak transcription	Placenta	Placenta
22	chr8:1784000-1789200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:1784000-1789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:1784000-1789600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:1784000-1789600	Weak transcription	Adipose Nuclei	Adipose
26	chr8:1784000-1790400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:1784000-1790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:1784000-1791000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:1784000-1791600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:1784000-1792000	Weak transcription	A549	lung
31	chr8:1784200-1791000	Weak transcription	NHLF	lung
32	chr8:1784200-1792400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:1784600-1790600	Weak transcription	Aorta	Aorta
34	chr8:1784800-1789000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:1784800-1791200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:1784800-1791600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:1785000-1789600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:1785000-1790400	Weak transcription	HMEC	breast
39	chr8:1785400-1789000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:1785600-1790800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:1786400-1790400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:1787000-1789400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:1787000-1789800	Weak transcription	Fetal Heart	heart
44	chr8:1787000-1790400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:1787000-1790400	Weak transcription	NHDF-Ad	bronchial
46	chr8:1787000-1790800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:1787200-1789000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:1787200-1789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:1787200-1789400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:1787200-1789600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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