Variant report

Variant	esv2531930
Chromosome Location	chr8:11491672-11495401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11432287..11434646-chr8:11489007..11491911,2	K562	blood:
2	chr8:11489168..11492004-chr8:11494231..11496266,2	K562	blood:
3	chr8:11490989..11493930-chr8:11499186..11501140,2	K562	blood:
4	chr8:11489168..11492004-chr8:11494231..11496266,2	K562	blood:
5	chr8:11477779..11479551-chr8:11492372..11494460,2	K562	blood:

Variant related genes	Relation type
ENSG00000170983	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561017423	chr8:11491684-11491685	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377233508	chr8:11491692-11491693	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187603197	chr8:11491699-11491700	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117207754	chr8:11491725-11491726	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73663187	chr8:11491727-11491728	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368352093	chr8:11491741-11491742	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs73663188	chr8:11491744-11491745	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566254631	chr8:11491745-11491746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200103830	chr8:11491753-11491754	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144819005	chr8:11491814-11491815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376137118	chr8:11491844-11491845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2256629	chr8:11491848-11491849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573739482	chr8:11491869-11491870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537945360	chr8:11491875-11491876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78628605	chr8:11491887-11491888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577610112	chr8:11491909-11491910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545274993	chr8:11491912-11491913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534782177	chr8:11491922-11491923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560212940	chr8:11491930-11491931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572029024	chr8:11491948-11491949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542377396	chr8:11491974-11491975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192093216	chr8:11491992-11491993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531646750	chr8:11492007-11492008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550052690	chr8:11492018-11492019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565273080	chr8:11492066-11492067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117119716	chr8:11492077-11492078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185144602	chr8:11492105-11492106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547791641	chr8:11492109-11492110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373945666	chr8:11492115-11492116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566342514	chr8:11492116-11492117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148613089	chr8:11492129-11492130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548755485	chr8:11492130-11492131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188062686	chr8:11492131-11492132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113164054	chr8:11492139-11492140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs386722285	chr8:11492153-11492154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116917684	chr8:11492154-11492155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192819394	chr8:11492158-11492159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538225561	chr8:11492191-11492192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553364618	chr8:11492205-11492206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543890985	chr8:11492236-11492237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184517412	chr8:11492281-11492282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542514514	chr8:11492328-11492329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141170954	chr8:11492331-11492332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557615366	chr8:11492346-11492347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575872875	chr8:11492363-11492364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147347881	chr8:11492372-11492373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565206779	chr8:11492380-11492381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532654702	chr8:11492409-11492410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116078445	chr8:11492418-11492419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546185510	chr8:11492465-11492466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
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
Acute myeloid leukemia	21251322	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
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	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
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11488600-11492200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:11489800-11491800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:11490000-11494000	Weak transcription	Fetal Intestine Large	intestine
4	chr8:11490600-11492200	Weak transcription	Spleen	Spleen
5	chr8:11490800-11499200	Weak transcription	Left Ventricle	heart
6	chr8:11491000-11492000	Enhancers	HepG2	liver
7	chr8:11491000-11492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:11491000-11494400	Weak transcription	Stomach Mucosa	stomach
9	chr8:11491000-11498400	Weak transcription	Pancreas	Pancrea
10	chr8:11491000-11499600	Weak transcription	Right Ventricle	heart
11	chr8:11491200-11494200	Weak transcription	Fetal Heart	heart
12	chr8:11491400-11493800	Weak transcription	Fetal Intestine Small	intestine
13	chr8:11491400-11494400	Weak transcription	Gastric	stomach
14	chr8:11492000-11492400	Weak transcription	HepG2	liver
15	chr8:11492200-11498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:11492400-11492600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:11492400-11492600	Enhancers	Spleen	Spleen
18	chr8:11492400-11493000	Enhancers	HepG2	liver
19	chr8:11492600-11493800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:11493000-11496400	Weak transcription	HepG2	liver
21	chr8:11493800-11495000	Enhancers	Fetal Intestine Small	intestine
22	chr8:11494000-11495000	Enhancers	Fetal Intestine Large	intestine
23	chr8:11494200-11495400	Enhancers	Fetal Heart	heart
24	chr8:11494400-11494800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
25	chr8:11494400-11495000	Enhancers	Gastric	stomach
26	chr8:11494400-11495000	Enhancers	Stomach Mucosa	stomach
27	chr8:11494800-11495000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:11495000-11498400	Weak transcription	Gastric	stomach
29	chr8:11495000-11498400	Weak transcription	Stomach Mucosa	stomach
30	chr8:11495200-11495600	Weak transcription	Fetal Intestine Large	intestine
31	chr8:11495400-11497800	Weak transcription	Fetal Heart	heart

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