Variant report

Variant	esv3397340
Chromosome Location	chr8:95388526-95389674
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	chr8:95385882..95388764-chr8:95485034..95487567,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197275	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562231984	chr8:95388540-95388541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556131524	chr8:95388560-95388561	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570126756	chr8:95388671-95388672	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35093018	chr8:95388692-95388693	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2515155	chr8:95388697-95388698	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141371393	chr8:95388735-95388736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112335388	chr8:95388892-95388893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148223334	chr8:95388897-95388898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2515154	chr8:95388903-95388904	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571323977	chr8:95388936-95388937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541713210	chr8:95389005-95389006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141179464	chr8:95389016-95389017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575241876	chr8:95389055-95389056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561914113	chr8:95389064-95389065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190279791	chr8:95389119-95389120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529359595	chr8:95389125-95389126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112229633	chr8:95389202-95389203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2445721	chr8:95389311-95389312	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531388627	chr8:95389345-95389346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150784781	chr8:95389352-95389353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564505006	chr8:95389385-95389386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527276832	chr8:95389391-95389392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567597645	chr8:95389420-95389421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529551308	chr8:95389447-95389448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547017214	chr8:95389449-95389450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182452801	chr8:95389450-95389451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529985045	chr8:95389460-95389461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549908121	chr8:95389492-95389493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139143586	chr8:95389531-95389532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539095866	chr8:95389535-95389536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369806712	chr8:95389542-95389543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558801441	chr8:95389544-95389545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566214128	chr8:95389551-95389552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186690473	chr8:95389552-95389553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555050669	chr8:95389556-95389557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111243987	chr8:95389562-95389563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113409865	chr8:95389593-95389594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543759828	chr8:95389663-95389664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95372800-95391200	Weak transcription	HepG2	liver
4	chr8:95373800-95391600	Weak transcription	Fetal Lung	lung
5	chr8:95374000-95390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:95374000-95391000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:95374400-95390400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:95374600-95392200	Weak transcription	Fetal Intestine Large	intestine
9	chr8:95374800-95391400	Weak transcription	Fetal Intestine Small	intestine
10	chr8:95375000-95389400	Weak transcription	Fetal Thymus	thymus
11	chr8:95377600-95390800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:95377800-95391000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:95378000-95391400	Weak transcription	Thymus	Thymus
15	chr8:95378200-95391400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:95378200-95403200	Weak transcription	Brain Angular Gyrus	brain
17	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:95378400-95391000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:95378400-95391200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:95378800-95390400	Weak transcription	Brain Substantia Nigra	brain
21	chr8:95379200-95391400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:95379200-95403600	Weak transcription	Brain Anterior Caudate	brain
23	chr8:95379400-95407000	Weak transcription	Fetal Stomach	stomach
24	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
25	chr8:95379600-95390800	Weak transcription	Fetal Brain Female	brain
26	chr8:95380200-95389200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:95380200-95391400	Weak transcription	Brain Germinal Matrix	brain
28	chr8:95380200-95409400	Weak transcription	HSMMtube	muscle
29	chr8:95380800-95389400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:95380800-95392000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:95381000-95390200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:95381000-95393000	Weak transcription	Primary B cells from cord blood	blood
33	chr8:95381400-95391400	Weak transcription	Ovary	ovary
34	chr8:95382400-95390800	Weak transcription	Liver	Liver
35	chr8:95382400-95391000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:95382400-95414800	Weak transcription	Gastric	stomach
37	chr8:95382600-95389200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:95382800-95390400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:95382800-95391400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr8:95383000-95392000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:95383200-95403600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:95383800-95390800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:95384200-95390400	Weak transcription	K562	blood
44	chr8:95384200-95390600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:95384200-95413600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:95385600-95389200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:95385800-95389200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:95385800-95389200	Weak transcription	A549	lung
49	chr8:95385800-95390400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:95385800-95390400	Weak transcription	Primary T cells from cord blood	blood

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