Variant report

Variant	esv3481327
Chromosome Location	chr8:10691035-10691291
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	CTCF	chr8:10691217-10691247	Kidney_OC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10690421..10694581-chr8:10695821..10698975,5	MCF-7	breast:
2	chr8:10687146..10690339-chr8:10690695..10692954,3	K562	blood:

Variant related genes	Relation type
PINX1	TF binding region
ENSG00000254093	chromatin interactions
ENSG00000258724	chromatin interactions
ENSG00000253695	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186138515	chr8:10691046-10691047	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs561423082	chr8:10691065-10691066	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs67211633	chr8:10691073-10691074	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112120919	chr8:10691088-10691089	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs550351940	chr8:10691092-10691093	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs563864160	chr8:10691098-10691099	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs111429452	chr8:10691103-10691104	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs529457211	chr8:10691117-10691118	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs62492352	chr8:10691124-10691125	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
10	rs370400771	chr8:10691151-10691152	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs183793626	chr8:10691156-10691157	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs576253813	chr8:10691163-10691164	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs188277234	chr8:10691167-10691168	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs375644072	chr8:10691188-10691189	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs370243291	chr8:10691198-10691199	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs11989260	chr8:10691199-10691200	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs377158553	chr8:10691215-10691216	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs113014410	chr8:10691216-10691217	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs62492353	chr8:10691220-10691221	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs535032872	chr8:10691227-10691228	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs548249686	chr8:10691228-10691229	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs111301070	chr8:10691231-10691232	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs551439442	chr8:10691245-10691246	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs373201280	chr8:10691251-10691252	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs534989933	chr8:10691252-10691253	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs542432282	chr8:10691260-10691261	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs11986043	chr8:10691277-10691278	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs140864742	chr8:10691278-10691279	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs149750920	chr8:10691281-10691282	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs192998718	chr8:10691285-10691286	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs548469790	chr8:10691288-10691289	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:139)

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
Schizophrenia	23813976	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
3	chr8:10666800-10692400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:10667600-10693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:10669200-10692800	Strong transcription	Primary B cells from cord blood	blood
7	chr8:10669400-10692200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr8:10669600-10691800	Strong transcription	GM12878-XiMat	blood
9	chr8:10669600-10692800	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:10670200-10692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:10670400-10692800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:10671400-10692000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:10673000-10692000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr8:10673200-10692200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr8:10673200-10692400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:10673800-10692000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:10674400-10692000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr8:10674400-10692800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:10674600-10692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:10674600-10692000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:10674600-10692000	Strong transcription	Fetal Muscle Leg	muscle
22	chr8:10674600-10692200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:10674600-10692200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:10674600-10693200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:10674800-10696200	Weak transcription	Stomach Mucosa	stomach
26	chr8:10675000-10693000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:10676200-10696200	Weak transcription	Fetal Heart	heart
28	chr8:10677200-10692400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:10677200-10692400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:10677200-10692400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:10678400-10692000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:10678400-10692200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr8:10678400-10692800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr8:10678600-10692400	Strong transcription	Left Ventricle	heart
35	chr8:10678800-10692400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr8:10679200-10693000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:10679600-10692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:10680400-10692000	Strong transcription	Adipose Nuclei	Adipose
39	chr8:10680400-10692000	Strong transcription	Fetal Intestine Large	intestine
40	chr8:10680400-10692200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:10680400-10692800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:10680400-10692800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr8:10680400-10692800	Strong transcription	Dnd41	blood
44	chr8:10680600-10691800	Strong transcription	Lung	lung
45	chr8:10680600-10692200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr8:10680600-10692400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:10680800-10693000	Strong transcription	Liver	Liver
48	chr8:10681200-10691800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:10681400-10692000	Strong transcription	Brain Hippocampus Middle	brain
50	chr8:10682200-10691800	Strong transcription	Placenta	Placenta

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