Variant report

Variant	esv3402691
Chromosome Location	chr8:11313454-11313743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11304077..11306061-chr8:11313210..11316017,2	K562	blood:
2	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:
3	chr8:11313214..11317170-chr8:11317580..11320923,5	K562	blood:
4	chr8:11273893..11276099-chr8:11313214..11316137,2	MCF-7	breast:
5	chr8:11306364..11309144-chr8:11311400..11314118,3	MCF-7	breast:
6	chr8:11311333..11313794-chr8:11324898..11327371,2	K562	blood:
7	chr8:11312294..11314584-chr8:11324898..11327052,2	K562	blood:
8	chr8:11306300..11308613-chr8:11308996..11313515,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154319	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200165979	chr8:11313456-11313457	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201536960	chr8:11313479-11313480	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186311074	chr8:11313489-11313490	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs28700987	chr8:11313500-11313501	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs199720214	chr8:11313536-11313537	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548654243	chr8:11313551-11313552	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569962899	chr8:11313554-11313555	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530553932	chr8:11313556-11313557	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537251027	chr8:11313567-11313568	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200641777	chr8:11313571-11313572	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74213727	chr8:11313593-11313594	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111697743	chr8:11313597-11313598	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112673015	chr8:11313616-11313617	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111540757	chr8:11313630-11313631	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201929946	chr8:11313653-11313654	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368779080	chr8:11313667-11313668	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200539637	chr8:11313671-11313672	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557569423	chr8:11313681-11313682	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs28459300	chr8:11313688-11313689	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187421382	chr8:11313690-11313691	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs199506465	chr8:11313734-11313735	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	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
Breast cancer	22522925	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11287800-11313600	Weak transcription	Right Atrium	heart
2	chr8:11296200-11319200	Enhancers	Fetal Thymus	thymus
3	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr8:11307200-11314000	Weak transcription	Fetal Heart	heart
5	chr8:11307200-11322000	Weak transcription	HSMMtube	muscle
6	chr8:11307600-11319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:11307800-11313800	Weak transcription	NHEK	skin
8	chr8:11308400-11314600	Enhancers	Thymus	Thymus
9	chr8:11308600-11314000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr8:11308600-11314800	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:11308800-11313600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:11308800-11316600	Enhancers	Primary T cells from cord blood	blood
13	chr8:11309400-11313800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr8:11309800-11313800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:11310400-11313800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:11310400-11316400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:11310600-11314600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:11310800-11316200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr8:11311000-11313600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:11311000-11313800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:11311200-11313800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:11311200-11316200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr8:11311200-11317000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:11311200-11317200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:11311400-11313800	Enhancers	A549	lung
26	chr8:11311400-11315200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:11311600-11314000	Enhancers	Fetal Brain Male	brain
28	chr8:11311600-11314200	Enhancers	Brain Cingulate Gyrus	brain
29	chr8:11311600-11314800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:11311600-11316600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:11311800-11313600	Enhancers	Gastric	stomach
32	chr8:11311800-11313800	Enhancers	Brain Substantia Nigra	brain
33	chr8:11312000-11313800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:11312200-11313600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:11312200-11313600	Weak transcription	GM12878-XiMat	blood
36	chr8:11312400-11315400	Enhancers	Right Ventricle	heart
37	chr8:11312400-11316400	Enhancers	Stomach Mucosa	stomach
38	chr8:11312600-11314000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:11312600-11314000	Weak transcription	Brain Anterior Caudate	brain
40	chr8:11312800-11313600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:11312800-11313600	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:11312800-11313800	Weak transcription	Dnd41	blood
43	chr8:11312800-11314800	Weak transcription	NHDF-Ad	bronchial
44	chr8:11312800-11315200	Enhancers	Esophagus	oesophagus
45	chr8:11312800-11315400	Enhancers	Lung	lung
46	chr8:11312800-11318600	Weak transcription	Fetal Brain Female	brain
47	chr8:11313000-11314000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:11313000-11315400	Enhancers	Pancreas	Pancrea
49	chr8:11313000-11318000	Weak transcription	Brain Germinal Matrix	brain
50	chr8:11313200-11313600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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