Variant report

Variant	esv3438992
Chromosome Location	chr8:10564842-10569440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10564366..10566017-chr8:10568811..10571288,2	K562	blood:
2	chr8:10563640..10566502-chr8:10586406..10589328,2	K562	blood:

Variant related genes	Relation type
ENSG00000171056	chromatin interactions
ENSG00000248896	chromatin interactions
ENSG00000183638	chromatin interactions

Extended variants
information (count: 254 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7836972	chr8:10564863-10564864	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77929244	chr8:10564883-10564884	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs539945643	chr8:10564891-10564892	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560120114	chr8:10564906-10564907	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs76686475	chr8:10564914-10564915	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs386722197	chr8:10564928-10564929	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs565209255	chr8:10564929-10564930	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs370833492	chr8:10564935-10564936	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs531010956	chr8:10564990-10564991	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs7840510	chr8:10564992-10564993	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190426610	chr8:10565009-10565010	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs558419578	chr8:10565011-10565012	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs571202680	chr8:10565016-10565017	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs146579188	chr8:10565039-10565040	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs558300472	chr8:10565042-10565043	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs7827595	chr8:10565059-10565060	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149178494	chr8:10565077-10565078	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs374806054	chr8:10565120-10565121	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs539002868	chr8:10565140-10565141	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs552522970	chr8:10565197-10565198	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs569131090	chr8:10565199-10565200	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs6601509	chr8:10565219-10565220	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554793453	chr8:10565225-10565226	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs568137781	chr8:10565241-10565242	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs533921404	chr8:10565243-10565244	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs553551631	chr8:10565259-10565260	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs4841424	chr8:10565263-10565264	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs147605842	chr8:10565269-10565270	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs114103068	chr8:10565273-10565274	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs558834556	chr8:10565293-10565294	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs111606429	chr8:10565306-10565307	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs148373522	chr8:10565326-10565327	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs372920015	chr8:10565374-10565375	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs185467328	chr8:10565397-10565398	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs141594223	chr8:10565446-10565447	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs375409921	chr8:10565449-10565450	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs55638974	chr8:10565463-10565464	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs369839142	chr8:10565470-10565471	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs540739229	chr8:10565471-10565472	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs150081880	chr8:10565493-10565494	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs532556000	chr8:10565519-10565520	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs4841425	chr8:10565527-10565528	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4841426	chr8:10565533-10565534	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190372595	chr8:10565542-10565543	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs568260694	chr8:10565545-10565546	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs533720814	chr8:10565577-10565578	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs181412453	chr8:10565592-10565593	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs570171569	chr8:10565599-10565600	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs539138295	chr8:10565607-10565608	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs185553054	chr8:10565636-10565637	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:137)

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
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10560400-10567800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:10563800-10568000	Enhancers	Hela-S3	cervix
3	chr8:10565800-10566000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:10565800-10566000	ZNF genes & repeats	Spleen	Spleen
5	chr8:10566000-10568200	Weak transcription	Spleen	Spleen
6	chr8:10566000-10568400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:10567400-10570400	Enhancers	Esophagus	oesophagus
8	chr8:10567400-10571800	Enhancers	HMEC	breast
9	chr8:10567600-10568400	Enhancers	HUVEC	blood vessel
10	chr8:10567800-10568000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:10567800-10568000	Enhancers	NHEK	skin
12	chr8:10567800-10568200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:10567800-10568400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:10567800-10568400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:10567800-10571600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:10567800-10572200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:10568000-10568400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:10568000-10568800	Flanking Active TSS	Hela-S3	cervix
19	chr8:10568000-10568800	Flanking Active TSS	NHEK	skin
20	chr8:10568000-10569000	Enhancers	Right Ventricle	heart
21	chr8:10568000-10569600	Enhancers	Primary hematopoietic stem cells	blood
22	chr8:10568200-10568800	Enhancers	Right Atrium	heart
23	chr8:10568200-10569000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:10568200-10569000	Enhancers	Spleen	Spleen
25	chr8:10568200-10569000	Enhancers	GM12878-XiMat	blood
26	chr8:10568200-10569000	Enhancers	NH-A	brain
27	chr8:10568200-10569200	Enhancers	Adipose Nuclei	Adipose
28	chr8:10568200-10569400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr8:10568200-10569400	Enhancers	Fetal Thymus	thymus
30	chr8:10568200-10569400	Enhancers	Left Ventricle	heart
31	chr8:10568200-10569600	Enhancers	Lung	lung
32	chr8:10568400-10568600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:10568400-10568800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:10568400-10568800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr8:10568400-10568800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:10568400-10568800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:10568400-10568800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr8:10568400-10568800	Flanking Active TSS	HUVEC	blood vessel
39	chr8:10568400-10569000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:10568400-10569000	Enhancers	A549	lung
41	chr8:10568400-10569000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr8:10568400-10569400	Enhancers	K562	blood
43	chr8:10568600-10568800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr8:10568600-10568800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:10568600-10568800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr8:10568600-10569000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:10568600-10569000	Enhancers	Primary B cells from peripheral blood	blood
48	chr8:10568600-10569000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr8:10568600-10569000	Enhancers	Placenta	Placenta
50	chr8:10568600-10569200	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links