Variant report

Variant	esv3385503
Chromosome Location	chr8:9587884-9588238
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	EP300	chr8:9588090-9588239	K562	blood:	n/a	chr8:9588110-9588120
2	POLR2A	chr8:9588221-9588255	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
TNKS	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138666473	chr8:9587887-9587888	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs554527155	chr8:9587888-9587889	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11782886	chr8:9587891-9587892	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11785987	chr8:9587894-9587895	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576044005	chr8:9587902-9587903	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568533361	chr8:9587909-9587910	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572987472	chr8:9587929-9587930	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7016839	chr8:9587949-9587950	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558930549	chr8:9587968-9587969	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs371428605	chr8:9587969-9587970	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544895307	chr8:9587987-9587988	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11993880	chr8:9587991-9587992	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184730929	chr8:9588019-9588020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540820272	chr8:9588044-9588045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560323129	chr8:9588045-9588046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571065601	chr8:9588069-9588070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532211035	chr8:9588075-9588076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551952659	chr8:9588088-9588089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149308089	chr8:9588090-9588091	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs4626603	chr8:9588107-9588108	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111606039	chr8:9588111-9588112	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs4626604	chr8:9588112-9588113	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs77129355	chr8:9588121-9588122	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs533773855	chr8:9588136-9588137	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs553530202	chr8:9588187-9588188	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs570282170	chr8:9588191-9588192	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs34892813	chr8:9588197-9588198	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs566831711	chr8:9588208-9588209	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs558739476	chr8:9588222-9588223	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs188746736	chr8:9588223-9588224	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:144)

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
low-grade B-cell lymphoma tumor	18367492	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
Bladder cancer	21909424	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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9513400-9605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:9529600-9606400	Weak transcription	Esophagus	oesophagus
3	chr8:9535000-9608000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:9537600-9592400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:9541400-9592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:9542200-9606800	Weak transcription	Small Intestine	intestine
7	chr8:9543000-9592200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:9543400-9606400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:9544000-9592400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:9544000-9592400	Weak transcription	Psoas Muscle	Psoas
11	chr8:9545600-9592400	Weak transcription	Brain Angular Gyrus	brain
12	chr8:9550000-9627600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:9551000-9592400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:9551200-9610600	Weak transcription	Fetal Brain Male	brain
15	chr8:9557400-9632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:9558000-9592400	Weak transcription	Gastric	stomach
17	chr8:9558400-9597600	Weak transcription	Spleen	Spleen
18	chr8:9558400-9605000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:9559400-9592400	Weak transcription	Right Ventricle	heart
20	chr8:9560600-9609200	Weak transcription	K562	blood
21	chr8:9561000-9616200	Weak transcription	Brain Substantia Nigra	brain
22	chr8:9561400-9592000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:9562200-9608000	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:9562600-9592400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:9562800-9592400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:9564000-9608200	Weak transcription	Colonic Mucosa	Colon
27	chr8:9565000-9606400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:9565000-9608000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:9565000-9616200	Weak transcription	Pancreas	Pancrea
30	chr8:9565400-9592400	Weak transcription	HUVEC	blood vessel
31	chr8:9566000-9639400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:9567800-9592000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:9567800-9605400	Weak transcription	NHLF	lung
34	chr8:9567800-9611200	Weak transcription	NHEK	skin
35	chr8:9568000-9592400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:9569000-9588400	Weak transcription	NHDF-Ad	bronchial
37	chr8:9569000-9592200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:9569000-9606200	Weak transcription	HSMMtube	muscle
39	chr8:9569200-9588000	Weak transcription	NH-A	brain
40	chr8:9569200-9592400	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:9569400-9592200	Weak transcription	Brain Germinal Matrix	brain
42	chr8:9570000-9638600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:9571600-9606200	Weak transcription	Aorta	Aorta
44	chr8:9575400-9590800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr8:9575800-9589200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:9576000-9592600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:9576000-9611400	Weak transcription	Fetal Heart	heart
48	chr8:9576600-9591000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:9576600-9591200	Strong transcription	Liver	Liver
50	chr8:9577000-9588800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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