Variant report

Variant	esv3443447
Chromosome Location	chr8:11310642-11315840
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11268709..11269611-chr8:11315574..11316471,2	K562	blood:
2	chr8:11311333..11313794-chr8:11324898..11327371,2	K562	blood:
3	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:
4	chr8:11306364..11309144-chr8:11311400..11314118,3	MCF-7	breast:
5	chr8:11306300..11308613-chr8:11308996..11313515,5	K562	blood:
6	chr8:11297528..11299485-chr8:11309455..11311186,2	K562	blood:
7	chr8:11273893..11276099-chr8:11313214..11316137,2	MCF-7	breast:
8	chr8:11313788..11316536-chr8:11322548..11325766,4	MCF-7	breast:
9	chr8:11312294..11314584-chr8:11324898..11327052,2	K562	blood:
10	chr8:11304077..11306061-chr8:11313210..11316017,2	K562	blood:
11	chr8:11303373..11305446-chr8:11310341..11312400,2	K562	blood:
12	chr8:11313214..11317170-chr8:11317580..11320923,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154319	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148646212	chr8:11310642-11310643	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570503707	chr8:11310655-11310656	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534608274	chr8:11310657-11310658	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533428301	chr8:11310703-11310704	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535184198	chr8:11310735-11310736	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6601589	chr8:11310784-11310785	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370483899	chr8:11310808-11310809	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142159560	chr8:11310836-11310837	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535165699	chr8:11310866-11310867	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575173016	chr8:11310879-11310880	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560270862	chr8:11310904-11310905	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557139586	chr8:11310907-11310908	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150783253	chr8:11310927-11310928	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184573887	chr8:11310955-11310956	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529448617	chr8:11310969-11310970	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554799149	chr8:11310979-11310980	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139665568	chr8:11310984-11310985	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564251472	chr8:11310995-11310996	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74546638	chr8:11310999-11311000	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11785710	chr8:11311023-11311024	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs145273983	chr8:11311145-11311146	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2409776	chr8:11311146-11311147	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2409777	chr8:11311149-11311150	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116111450	chr8:11311181-11311182	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147645067	chr8:11311232-11311233	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77522813	chr8:11311266-11311267	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112151007	chr8:11311274-11311275	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142327033	chr8:11311320-11311321	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546590035	chr8:11311326-11311327	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71539724	chr8:11311339-11311340	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2409779	chr8:11311340-11311341	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs144646216	chr8:11311346-11311347	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112554125	chr8:11311347-11311348	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145753452	chr8:11311355-11311356	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs75308661	chr8:11311359-11311360	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573109918	chr8:11311370-11311371	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555846577	chr8:11311377-11311378	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs188970897	chr8:11311386-11311387	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546749343	chr8:11311390-11311391	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555761381	chr8:11311391-11311392	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs191886175	chr8:11311420-11311421	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78764165	chr8:11311461-11311462	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs562967706	chr8:11311475-11311476	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577529750	chr8:11311532-11311533	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs578109322	chr8:11311546-11311547	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545627634	chr8:11311547-11311548	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560633711	chr8:11311577-11311578	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112169290	chr8:11311627-11311628	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376569655	chr8:11311634-11311635	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535168839	chr8:11311639-11311640	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	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:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11287800-11313600	Weak transcription	Right Atrium	heart
2	chr8:11292400-11313000	Weak transcription	Pancreas	Pancrea
3	chr8:11296200-11319200	Enhancers	Fetal Thymus	thymus
4	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr8:11305800-11312200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:11306400-11311800	Weak transcription	Gastric	stomach
7	chr8:11306400-11312200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:11306600-11311400	Weak transcription	A549	lung
9	chr8:11307000-11311400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:11307000-11311400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:11307200-11314000	Weak transcription	Fetal Heart	heart
12	chr8:11307200-11322000	Weak transcription	HSMMtube	muscle
13	chr8:11307400-11312000	Weak transcription	Esophagus	oesophagus
14	chr8:11307600-11312400	Weak transcription	Right Ventricle	heart
15	chr8:11307600-11319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:11307800-11311600	Weak transcription	Fetal Brain Male	brain
17	chr8:11307800-11313800	Weak transcription	NHEK	skin
18	chr8:11308000-11312000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:11308200-11311600	Weak transcription	Fetal Brain Female	brain
20	chr8:11308200-11313200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:11308200-11313400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:11308400-11314600	Enhancers	Thymus	Thymus
23	chr8:11308600-11314000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:11308600-11314800	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:11308800-11313600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:11308800-11316600	Enhancers	Primary T cells from cord blood	blood
27	chr8:11309400-11313800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:11309600-11313200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:11309800-11311000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:11309800-11311800	Weak transcription	Spleen	Spleen
31	chr8:11309800-11313800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:11310000-11311200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:11310000-11311200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:11310000-11311600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:11310000-11312200	Enhancers	GM12878-XiMat	blood
36	chr8:11310200-11311200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:11310200-11311800	Weak transcription	Dnd41	blood
38	chr8:11310400-11310800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr8:11310400-11311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:11310400-11311600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:11310400-11311800	Weak transcription	Brain Angular Gyrus	brain
42	chr8:11310400-11311800	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:11310400-11313800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:11310400-11316400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr8:11310600-11311000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:11310600-11311400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:11310600-11311600	Weak transcription	Primary B cells from cord blood	blood
48	chr8:11310600-11311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:11310600-11311800	Weak transcription	Brain Anterior Caudate	brain
50	chr8:11310600-11311800	Weak transcription	Brain Substantia Nigra	brain

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