Variant report

Variant	esv3434503
Chromosome Location	chr8:1807442-1807697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1807575-1807625	HNPCEpiC	eye:	n/a
2	chr8:1807575-1807625	PrEC	prostate:	n/a
3	chr8:1807575-1807625	SK-N-SH	brain:	n/a
4	chr8:1807575-1807625	HCM	heart:	n/a
5	chr8:1807575-1807625	HCF	heart:	n/a
6	chr8:1807575-1807625	U87	brain:	n/a
7	chr8:1807575-1807625	AG04450	lung:	fetal
8	chr8:1807575-1807625	GM12891	blood:	n/a
9	chr8:1807575-1807625	PANC-1	pancreas:	n/a
10	chr8:1807575-1807625	HRPEpiC	eye:	n/a
11	chr8:1807575-1807625	ovcar-3	ovarian:	n/a
12	chr8:1807575-1807625	HCT-116	colon:	n/a
13	chr8:1807575-1807625	MCF-7	breast:	n/a
14	chr8:1807575-1807625	K562	blood:	n/a
15	chr8:1807575-1807625	AG10803	skin:	n/a
16	chr8:1807575-1807625	HL-60	blood:	n/a
17	chr8:1807575-1807625	H1-hESC	embryonic stem cell:	embryo
18	chr8:1807575-1807625	Hela-S3	cervix:	n/a
19	chr8:1807575-1807625	NHBE	bronchial:	n/a
20	chr8:1807575-1807625	SK-N-MC	brain:	n/a
21	chr8:1807575-1807625	NB4	blood:	n/a
22	chr8:1807575-1807625	NHDF-neo	bronchial:	n/a
23	chr8:1807575-1807625	CMK	blood:	n/a
24	chr8:1807575-1807625	Hepatocyte	liver:	n/a
25	chr8:1807575-1807625	MCF10A-Er-Src	breast:	n/a
26	chr8:1807575-1807625	IMR90	lung:	fetal
27	chr8:1807575-1807625	HepG2	liver:	n/a
28	chr8:1807575-1807625	Caco-2	colon:	n/a
29	chr8:1807575-1807625	HMEC	breast:	n/a
30	chr8:1807575-1807625	NH-A	brain:	n/a
31	chr8:1807575-1807625	HRE	kidney:	n/a
32	chr8:1807575-1807625	HCPEpiC	choroid plexus:	n/a
33	chr8:1807575-1807625	HEEpiC	esophagus:	n/a
34	chr8:1807575-1807625	HAEpiC	amniotic membrane:	n/a
35	chr8:1807575-1807625	HUVEC	blood vessel:	n/a
36	chr8:1807575-1807625	SKMC	muscle:	n/a
37	chr8:1807575-1807625	SAEC	small airway:	n/a
38	chr8:1807575-1807625	GM12892	blood:	n/a
39	chr8:1807575-1807625	GM06990	blood:	n/a
40	chr8:1807575-1807625	Jurkat	blood:	n/a
41	chr8:1807575-1807625	ECC-1	luminal epithelium:	n/a
42	chr8:1807575-1807625	AG09319	gingival:	n/a
43	chr8:1807575-1807625	T-47D	breast:	n/a
44	chr8:1807575-1807625	GM12878	blood:	n/a
45	chr8:1807575-1807625	PFSK-1	brain:	n/a
46	chr8:1807575-1807625	BJ	skin:	n/a
47	chr8:1807575-1807625	HRCEpiC	kidney:	n/a
48	chr8:1807575-1807625	HEK293	kidney:	embryo
49	chr8:1807575-1807625	HIPEpiC	eye:	n/a
50	chr8:1807575-1807625	SK-N-SH_RA	brain:	n/a

No data

Variant related genes	Relation type
ARHGEF10	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73176777	chr8:1807449-1807450	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372597540	chr8:1807471-1807472	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs146945784	chr8:1807500-1807501	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs112514247	chr8:1807506-1807507	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs111548682	chr8:1807520-1807521	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs149317332	chr8:1807531-1807532	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs146278715	chr8:1807533-1807534	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs192173732	chr8:1807555-1807556	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs74903480	chr8:1807563-1807564	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs73176780	chr8:1807576-1807577	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs546256420	chr8:1807600-1807601	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs566506939	chr8:1807638-1807639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111633090	chr8:1807646-1807647	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535375375	chr8:1807648-1807649	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs7007745	chr8:1807680-1807681	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs111324225	chr8:1807689-1807690	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs183560998	chr8:1807694-1807695	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
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
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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1774000-1845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:1780600-1808800	Weak transcription	Hela-S3	cervix
3	chr8:1790000-1816400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:1791600-1811400	Weak transcription	NHDF-Ad	bronchial
5	chr8:1794200-1807800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:1794200-1808000	Weak transcription	NHEK	skin
7	chr8:1794200-1808400	Weak transcription	HSMMtube	muscle
8	chr8:1795800-1808200	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:1796000-1814200	Weak transcription	Colonic Mucosa	Colon
10	chr8:1796600-1807800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:1796600-1812200	Weak transcription	Brain Germinal Matrix	brain
12	chr8:1796800-1807800	Weak transcription	HMEC	breast
13	chr8:1796800-1808000	Weak transcription	NH-A	brain
14	chr8:1797200-1815600	Weak transcription	Fetal Kidney	kidney
15	chr8:1798000-1807600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:1799600-1807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:1802200-1845000	Weak transcription	Right Atrium	heart
18	chr8:1802400-1811600	Weak transcription	Psoas Muscle	Psoas
19	chr8:1802600-1807600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:1802600-1811200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:1803200-1809200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:1803400-1808000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:1804000-1808000	Weak transcription	Placenta	Placenta
24	chr8:1804200-1819400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:1804400-1809000	Weak transcription	HUVEC	blood vessel
26	chr8:1804600-1816600	Strong transcription	Fetal Stomach	stomach
27	chr8:1805400-1820000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:1805800-1819000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:1805800-1820400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:1805800-1820800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:1806000-1809800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:1806000-1810200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:1806000-1815200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:1806000-1819200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:1806000-1828800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:1806000-1844000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:1806200-1807800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:1806200-1808000	Weak transcription	Fetal Intestine Large	intestine
39	chr8:1806200-1808400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr8:1806200-1809000	Strong transcription	Fetal Muscle Leg	muscle
41	chr8:1806200-1809600	Enhancers	Fetal Brain Male	brain
42	chr8:1806200-1810600	Strong transcription	A549	lung
43	chr8:1806200-1810800	Strong transcription	Right Ventricle	heart
44	chr8:1806200-1811800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:1806200-1814800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:1806200-1814800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr8:1806200-1815200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:1806200-1820600	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr8:1806200-1821800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:1806200-1821800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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