Variant report

Variant	esv10006
Chromosome Location	chr8:1867121-1868311
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	chr8:1868197-1868284	GM20000	blood:	n/a	n/a
2	CTCF	chr8:1868152-1868185	Kidney_OC	kidney:	n/a	n/a
3	FOSL2	chr8:1868018-1868397	HepG2	liver:	n/a	n/a
4	JUND	chr8:1868181-1868304	HepG2	liver:	n/a	n/a
5	MYC	chr8:1867588-1867604	HUVEC	blood vessel:	n/a	n/a
6	MYC	chr8:1867879-1868202	H1-hESC	embryonic stem cell:	n/a	n/a
7	PAX5	chr8:1867767-1868179	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:1868130-1868324	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:1867565-1867634	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr8:1867315-1867444	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:1867194-1867464	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr8:1867471-1868307	H1-hESC	embryonic stem cell:	n/a	n/a
13	POU2F2	chr8:1867984-1868354	GM12878	blood:	n/a	n/a
14	SRF	chr8:1868156-1868298	GM12878	blood:	n/a	n/a
15	SRF	chr8:1868182-1868304	GM12878	blood:	n/a	n/a
16	ZBTB33	chr8:1867994-1868264	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ARHGEF10	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542690693	chr8:1867127-1867128	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562973165	chr8:1867138-1867139	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576478421	chr8:1867149-1867150	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545348851	chr8:1867164-1867165	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187837286	chr8:1867185-1867186	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568004981	chr8:1867265-1867266	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200252731	chr8:1867296-1867297	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs576173945	chr8:1867300-1867301	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201047683	chr8:1867325-1867326	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs148507466	chr8:1867326-1867327	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561443369	chr8:1867344-1867345	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs199841861	chr8:1867345-1867346	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs530286517	chr8:1867361-1867362	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs35068948	chr8:1867364-1867365	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377101049	chr8:1867365-1867366	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs569692447	chr8:1867369-1867370	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs372783745	chr8:1867381-1867382	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs538357695	chr8:1867385-1867386	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111611480	chr8:1867403-1867404	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs141082769	chr8:1867437-1867438	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs565581360	chr8:1867483-1867484	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs34023863	chr8:1867510-1867511	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554472052	chr8:1867560-1867561	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs574414544	chr8:1867569-1867570	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs536817918	chr8:1867625-1867626	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs556890190	chr8:1867651-1867652	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs576437940	chr8:1867652-1867653	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs35245882	chr8:1867653-1867654	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565265058	chr8:1867658-1867659	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs144940680	chr8:1867660-1867661	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs541455282	chr8:1867669-1867670	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs561528283	chr8:1867680-1867681	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530425338	chr8:1867681-1867682	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs550350636	chr8:1867684-1867685	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs563775832	chr8:1867686-1867687	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs532223493	chr8:1867691-1867692	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs552021900	chr8:1867701-1867702	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs565650303	chr8:1867702-1867703	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs192877434	chr8:1867707-1867708	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs547798698	chr8:1867713-1867714	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs567976427	chr8:1867714-1867715	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs536953375	chr8:1867715-1867716	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs557117392	chr8:1867724-1867725	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs577007649	chr8:1867725-1867726	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs539099682	chr8:1867729-1867730	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs558752121	chr8:1867743-1867744	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs113628759	chr8:1867810-1867811	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs185269587	chr8:1867840-1867841	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs141752228	chr8:1867846-1867847	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575206693	chr8:1867847-1867848	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

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

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1841000-1877600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:1845400-1879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
4	chr8:1845600-1867200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:1854200-1872000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:1857000-1890600	Weak transcription	Psoas Muscle	Psoas
7	chr8:1858200-1872000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:1858400-1870200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:1858400-1872800	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:1858400-1873200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:1859600-1867800	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr8:1859800-1871800	Weak transcription	Osteobl	bone
13	chr8:1860400-1876400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:1860600-1878000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:1860800-1871800	Weak transcription	Aorta	Aorta
16	chr8:1860800-1872400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:1862200-1880400	Weak transcription	Fetal Heart	heart
18	chr8:1862600-1872200	Weak transcription	Left Ventricle	heart
19	chr8:1862600-1873400	Weak transcription	Ovary	ovary
20	chr8:1863200-1871800	Weak transcription	Right Ventricle	heart
21	chr8:1863400-1872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:1863800-1871800	Weak transcription	HSMMtube	muscle
23	chr8:1864400-1867200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:1864400-1867200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:1864400-1867200	Weak transcription	Lung	lung
26	chr8:1864400-1867400	Weak transcription	Adipose Nuclei	Adipose
27	chr8:1864400-1871800	Weak transcription	Gastric	stomach
28	chr8:1864400-1872000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:1864400-1872200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:1864400-1873400	Weak transcription	Pancreas	Pancrea
31	chr8:1864800-1867200	Weak transcription	HUVEC	blood vessel
32	chr8:1865400-1868000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:1865400-1869800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:1865800-1871600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:1865800-1872000	Weak transcription	Fetal Brain Male	brain
36	chr8:1865800-1872000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:1866000-1871600	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:1866400-1867200	Strong transcription	HSMM	muscle
39	chr8:1866400-1867400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr8:1866400-1867800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr8:1866400-1867800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr8:1866400-1867800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:1866400-1867800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:1866400-1868000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr8:1866400-1868000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:1866400-1868000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:1866400-1871600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:1866400-1871600	Weak transcription	Brain Anterior Caudate	brain
49	chr8:1866400-1871800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:1866600-1870600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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