Variant report

Variant	esv3478854
Chromosome Location	chr8:11596859-11597269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11539259..11542164-chr8:11597073..11599165,2	K562	blood:
2	chr8:11591235..11593958-chr8:11596289..11599028,2	K562	blood:
3	chr8:11591065..11593958-chr8:11596215..11599028,3	K562	blood:
4	chr8:11595827..11599047-chr8:11599477..11602717,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192434787	chr8:11596863-11596864	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs375662078	chr8:11596870-11596871	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183943039	chr8:11596882-11596883	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573379956	chr8:11596892-11596893	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541097066	chr8:11596899-11596900	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559215961	chr8:11596984-11596985	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs79753962	chr8:11596995-11596996	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs548253927	chr8:11597002-11597003	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs75146829	chr8:11597004-11597005	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188941684	chr8:11597012-11597013	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533924171	chr8:11597029-11597030	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs151158785	chr8:11597030-11597031	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs34814359	chr8:11597033-11597034	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571510578	chr8:11597043-11597044	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs7827193	chr8:11597046-11597047	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565109627	chr8:11597059-11597060	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547064276	chr8:11597074-11597075	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144310087	chr8:11597205-11597206	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182874807	chr8:11597234-11597235	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs202140583	chr8:11597240-11597241	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs140793181	chr8:11597242-11597243	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs371948451	chr8:11597244-11597245	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs553142288	chr8:11597258-11597259	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4840580	chr8:11597262-11597263	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs568927048	chr8:11597269-11597270	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

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
Gastric cancer	17229543	CNVD
Disorders of sex development	22290220	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11591800-11597400	Enhancers	Fetal Heart	heart
2	chr8:11593400-11597800	Enhancers	Placenta	Placenta
3	chr8:11593400-11601400	Genic enhancers	Fetal Intestine Small	intestine
4	chr8:11593600-11598000	Enhancers	Left Ventricle	heart
5	chr8:11593600-11599200	Enhancers	Liver	Liver
6	chr8:11593800-11597200	Enhancers	Right Ventricle	heart
7	chr8:11594600-11597200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:11594600-11597600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:11595200-11597200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:11595200-11598000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:11595200-11599000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:11595200-11600600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:11595400-11600600	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:11596000-11597600	Enhancers	Stomach Mucosa	stomach
15	chr8:11596200-11597400	Enhancers	Gastric	stomach
16	chr8:11596200-11597800	Strong transcription	HepG2	liver
17	chr8:11596200-11599200	Enhancers	Right Atrium	heart
18	chr8:11596200-11604000	Enhancers	Pancreas	Pancrea
19	chr8:11596400-11597200	Enhancers	Ovary	ovary
20	chr8:11596400-11599200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:11596800-11597200	Active TSS	K562	blood
22	chr8:11597200-11597400	Flanking Active TSS	Ovary	ovary
23	chr8:11597200-11597600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr8:11597200-11597600	Flanking Active TSS	Right Ventricle	heart
25	chr8:11597200-11597800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr8:11597200-11597800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:11597200-11597800	Bivalent/Poised TSS	K562	blood

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