Variant report

Variant	esv3338919
Chromosome Location	chr8:1807190-1807555
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	chr8:1807280-1807330	SK-N-SH	brain:	n/a
2	chr8:1807280-1807330	PANC-1	pancreas:	n/a
3	chr8:1807280-1807330	HRE	kidney:	n/a
4	chr8:1807280-1807330	HMEC	breast:	n/a
5	chr8:1807280-1807330	HCT-116	colon:	n/a
6	chr8:1807280-1807330	LNCaP	prostate:	n/a
7	chr8:1807280-1807330	SKMC	muscle:	n/a
8	chr8:1807280-1807330	HRCEpiC	kidney:	n/a
9	chr8:1807280-1807330	HRPEpiC	eye:	n/a
10	chr8:1807280-1807330	H1-hESC	embryonic stem cell:	embryo
11	chr8:1807280-1807330	GM12878	blood:	n/a
12	chr8:1807280-1807330	GM12892	blood:	n/a
13	chr8:1807280-1807330	PFSK-1	brain:	n/a
14	chr8:1807280-1807330	AoSMC	blood vessel:	n/a
15	chr8:1807280-1807330	BJ	skin:	n/a
16	chr8:1807280-1807330	MCF-7	breast:	n/a
17	chr8:1807280-1807330	HNPCEpiC	eye:	n/a
18	chr8:1807280-1807330	NT2-D1	testis:	n/a
19	chr8:1807280-1807330	HIPEpiC	eye:	n/a
20	chr8:1807280-1807330	K562	blood:	n/a
21	chr8:1807280-1807330	A549	lung:	n/a
22	chr8:1807280-1807330	MCF10A-Er-Src	breast:	n/a
23	chr8:1807280-1807330	HepG2	liver:	n/a
24	chr8:1807280-1807330	HCPEpiC	choroid plexus:	n/a
25	chr8:1807280-1807330	Hepatocyte	liver:	n/a
26	chr8:1807280-1807330	NB4	blood:	n/a
27	chr8:1807280-1807330	HL-60	blood:	n/a
28	chr8:1807280-1807330	AG04450	lung:	fetal
29	chr8:1807280-1807330	HPAEpiC	pulmonary alveolar:	n/a
30	chr8:1807280-1807330	ECC-1	luminal epithelium:	n/a
31	chr8:1807280-1807330	T-47D	breast:	n/a
32	chr8:1807280-1807330	CMK	blood:	n/a
33	chr8:1807280-1807330	AG04449	skin:	fetal
34	chr8:1807280-1807330	Caco-2	colon:	n/a
35	chr8:1807280-1807330	AG09309	skin:	n/a
36	chr8:1807280-1807330	GM19239	blood:	n/a
37	chr8:1807280-1807330	SAEC	small airway:	n/a
38	chr8:1807280-1807330	PrEC	prostate:	n/a
39	chr8:1807280-1807330	NH-A	brain:	n/a
40	chr8:1807280-1807330	AG09319	gingival:	n/a
41	chr8:1807280-1807330	GM12891	blood:	n/a
42	chr8:1807280-1807330	NHBE	bronchial:	n/a
43	chr8:1807280-1807330	SK-N-SH_RA	brain:	n/a
44	chr8:1807280-1807330	U87	brain:	n/a
45	chr8:1807280-1807330	HUVEC	blood vessel:	n/a
46	chr8:1807280-1807330	HCF	heart:	n/a
47	chr8:1807280-1807330	HEK293	kidney:	embryo
48	chr8:1807280-1807330	RPTEC	kidney:	n/a
49	chr8:1807280-1807330	BE2_C	brain:	n/a
50	chr8:1807280-1807330	HCM	heart:	n/a

No data

Variant related genes	Relation type
ARHGEF10	CpG island

Extended variants
information (count: 33 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543897628	chr8:1807219-1807220	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs182824629	chr8:1807240-1807241	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs76005599	chr8:1807255-1807256	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs79106489	chr8:1807256-1807257	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs79648339	chr8:1807260-1807261	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs80290732	chr8:1807263-1807264	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs17756505	chr8:1807264-1807265	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74901024	chr8:1807277-1807278	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs111432274	chr8:1807295-1807296	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs76754633	chr8:1807296-1807297	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs77783186	chr8:1807297-1807298	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs79775786	chr8:1807303-1807304	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs76742153	chr8:1807304-1807305	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs112952474	chr8:1807305-1807306	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs117751837	chr8:1807307-1807308	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs575567498	chr8:1807311-1807312	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs75691574	chr8:1807317-1807318	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs78728215	chr8:1807321-1807322	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs376639006	chr8:1807331-1807332	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs115089875	chr8:1807337-1807338	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs528759917	chr8:1807361-1807362	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs548912316	chr8:1807371-1807372	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs373628540	chr8:1807382-1807383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs112784459	chr8:1807404-1807405	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs112324520	chr8:1807407-1807408	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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

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:111 , 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	chr8:1794200-1807200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:1794200-1807800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:1794200-1808000	Weak transcription	NHEK	skin
8	chr8:1794200-1808400	Weak transcription	HSMMtube	muscle
9	chr8:1795800-1808200	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:1796000-1814200	Weak transcription	Colonic Mucosa	Colon
11	chr8:1796600-1807800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:1796600-1812200	Weak transcription	Brain Germinal Matrix	brain
13	chr8:1796800-1807200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:1796800-1807800	Weak transcription	HMEC	breast
15	chr8:1796800-1808000	Weak transcription	NH-A	brain
16	chr8:1797200-1815600	Weak transcription	Fetal Kidney	kidney
17	chr8:1798000-1807600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:1799600-1807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:1801800-1807200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:1802200-1845000	Weak transcription	Right Atrium	heart
21	chr8:1802400-1811600	Weak transcription	Psoas Muscle	Psoas
22	chr8:1802600-1807600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:1802600-1811200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:1803200-1809200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:1803400-1808000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:1804000-1808000	Weak transcription	Placenta	Placenta
27	chr8:1804200-1819400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:1804400-1809000	Weak transcription	HUVEC	blood vessel
29	chr8:1804600-1816600	Strong transcription	Fetal Stomach	stomach
30	chr8:1805400-1820000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:1805800-1819000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:1805800-1820400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:1805800-1820800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:1806000-1809800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:1806000-1810200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:1806000-1815200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:1806000-1819200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:1806000-1828800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:1806000-1844000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:1806200-1807800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:1806200-1808000	Weak transcription	Fetal Intestine Large	intestine
42	chr8:1806200-1808400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr8:1806200-1809000	Strong transcription	Fetal Muscle Leg	muscle
44	chr8:1806200-1809600	Enhancers	Fetal Brain Male	brain
45	chr8:1806200-1810600	Strong transcription	A549	lung
46	chr8:1806200-1810800	Strong transcription	Right Ventricle	heart
47	chr8:1806200-1811800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:1806200-1814800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:1806200-1814800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr8:1806200-1815200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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