Variant report

Variant	esv3481462
Chromosome Location	chr8:11144892-11146440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr8:11145939-11146343	K562	blood:	n/a	chr8:11146153-11146166
2	FOXA1	chr8:11144196-11144977	T-47D	breast:	n/a	n/a
3	FOXA1	chr8:11144637-11144942	T-47D	breast:	n/a	n/a
4	WRNIP1	chr8:11145959-11146142	GM12878	blood:	n/a	n/a
5	ZNF274	chr8:11144985-11145618	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11145415..11146964-chr8:11204889..11207266,2	K562	blood:
2	chr8:11142561..11144389-chr8:11146083..11147788,2	MCF-7	breast:
3	chr8:11142870..11145744-chr8:11152405..11154351,2	K562	blood:

Variant related genes	Relation type
ENSG00000249316	TF binding region
ENSG00000154316	chromatin interactions
ENSG00000104643	chromatin interactions
ENSG00000255020	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529408942	chr8:11144899-11144900	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs550867842	chr8:11144900-11144901	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558339610	chr8:11144905-11144906	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs184755497	chr8:11144983-11144984	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs530440675	chr8:11145001-11145002	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs189272077	chr8:11145068-11145069	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570330779	chr8:11145088-11145089	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534762132	chr8:11145090-11145091	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180953501	chr8:11145109-11145110	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568269961	chr8:11145143-11145144	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574897420	chr8:11145145-11145146	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568081252	chr8:11145162-11145163	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535598241	chr8:11145170-11145171	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553818994	chr8:11145178-11145179	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183582136	chr8:11145184-11145185	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545761686	chr8:11145206-11145207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558157757	chr8:11145209-11145210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200639913	chr8:11145213-11145214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557198000	chr8:11145215-11145216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145842191	chr8:11145223-11145224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573149318	chr8:11145254-11145255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62488593	chr8:11145281-11145282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570720462	chr8:11145282-11145283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs36211457	chr8:11145298-11145299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62488594	chr8:11145307-11145308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374899211	chr8:11145311-11145312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398047508	chr8:11145312-11145313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369319910	chr8:11145321-11145322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539736215	chr8:11145322-11145323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111269561	chr8:11145338-11145339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540733065	chr8:11145340-11145341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7836927	chr8:11145350-11145351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111665722	chr8:11145378-11145379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201815281	chr8:11145381-11145382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561802399	chr8:11145389-11145390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529469454	chr8:11145390-11145391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544366877	chr8:11145392-11145393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111215885	chr8:11145396-11145397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572383715	chr8:11145406-11145407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200410487	chr8:11145427-11145428	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs7837046	chr8:11145432-11145433	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs533710201	chr8:11145438-11145439	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs555018933	chr8:11145448-11145449	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs551783558	chr8:11145455-11145456	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs181724662	chr8:11145476-11145477	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs574594887	chr8:11145478-11145479	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs186780902	chr8:11145481-11145482	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111215909	chr8:11145491-11145492	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs543568845	chr8:11145515-11145516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs568132036	chr8:11145522-11145523	Weak transcription Strong transcription	Chromatin interactive region	2 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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11142800-11145000	Enhancers	Small Intestine	intestine
2	chr8:11143000-11145000	Enhancers	Spleen	Spleen
3	chr8:11143000-11145200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:11143000-11145200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr8:11143000-11146000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:11143000-11146000	Weak transcription	Lung	lung
7	chr8:11143000-11146200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:11143000-11149400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:11143000-11162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:11143000-11166400	Weak transcription	Esophagus	oesophagus
11	chr8:11143000-11166400	Weak transcription	Pancreas	Pancrea
12	chr8:11143200-11145200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:11143400-11145000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:11143400-11145000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:11143400-11145000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr8:11143400-11145000	Enhancers	Brain Germinal Matrix	brain
17	chr8:11143400-11146000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:11143400-11146000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:11143400-11146000	Weak transcription	Fetal Intestine Small	intestine
20	chr8:11143400-11146000	Weak transcription	Gastric	stomach
21	chr8:11143400-11146000	Weak transcription	NH-A	brain
22	chr8:11143400-11146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:11143400-11146600	Weak transcription	HUVEC	blood vessel
24	chr8:11143400-11147000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:11143400-11147000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:11143400-11147000	Weak transcription	Brain Substantia Nigra	brain
27	chr8:11143400-11150200	Weak transcription	Osteobl	bone
28	chr8:11143400-11152800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:11143400-11153000	Weak transcription	NHLF	lung
30	chr8:11143400-11153200	Weak transcription	Fetal Thymus	thymus
31	chr8:11143400-11154000	Weak transcription	Psoas Muscle	Psoas
32	chr8:11143400-11163600	Weak transcription	Brain Angular Gyrus	brain
33	chr8:11143400-11166400	Weak transcription	HSMMtube	muscle
34	chr8:11143600-11146000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:11143800-11145000	Enhancers	Stomach Mucosa	stomach
36	chr8:11143800-11145800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:11143800-11149200	Weak transcription	K562	blood
38	chr8:11143800-11149400	Weak transcription	Aorta	Aorta
39	chr8:11143800-11153200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:11143800-11169000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:11144000-11145000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:11144000-11145000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr8:11144000-11145000	Enhancers	Brain Anterior Caudate	brain
44	chr8:11144000-11145000	Enhancers	HepG2	liver
45	chr8:11144000-11146000	Weak transcription	Fetal Stomach	stomach
46	chr8:11144000-11147800	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:11144000-11152800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr8:11144000-11152800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:11144000-11163200	Weak transcription	Right Ventricle	heart
50	chr8:11144200-11145000	Genic enhancers	Primary B cells from peripheral blood	blood

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