Variant report

Variant	esv3322811
Chromosome Location	chr8:1878345-1882643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1876158..1879042-chr8:1903928..1907345,3	K562	blood:
2	chr8:1876812..1880065-chr8:1886346..1889205,3	K562	blood:
3	chr8:1880957..1882903-chr8:1922237..1924079,2	MCF-7	breast:
4	chr8:1877543..1880354-chr8:1915068..1917833,2	K562	blood:

Variant related genes	Relation type
ENSG00000253764	chromatin interactions
ENSG00000270988	chromatin interactions

Extended variants
information (count: 235 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142704590	chr8:1878402-1878403	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs533869908	chr8:1878414-1878415	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs553916774	chr8:1878426-1878427	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573719981	chr8:1878427-1878428	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs542826203	chr8:1878433-1878434	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561796587	chr8:1878436-1878437	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs3779701	chr8:1878449-1878450	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544189058	chr8:1878502-1878503	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs564169938	chr8:1878507-1878508	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs533663818	chr8:1878545-1878546	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573006919	chr8:1878567-1878568	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs540539246	chr8:1878585-1878586	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560865390	chr8:1878611-1878612	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529421257	chr8:1878619-1878620	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371516402	chr8:1878624-1878625	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549609004	chr8:1878626-1878627	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3837163	chr8:1878652-1878653	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568965193	chr8:1878654-1878655	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76496953	chr8:1878658-1878659	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190767838	chr8:1878667-1878668	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386720723	chr8:1878668-1878669	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3779703	chr8:1878669-1878670	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533798230	chr8:1878670-1878671	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576303940	chr8:1878681-1878682	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567551044	chr8:1878750-1878751	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545374983	chr8:1878763-1878764	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372471522	chr8:1878770-1878771	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555979093	chr8:1878826-1878827	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs575330126	chr8:1878834-1878835	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182014482	chr8:1878859-1878860	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs185498245	chr8:1878860-1878861	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577933573	chr8:1878883-1878884	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs540627764	chr8:1878886-1878887	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147604904	chr8:1878899-1878900	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189809721	chr8:1878902-1878903	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs543241171	chr8:1878912-1878913	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs572179679	chr8:1878917-1878918	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs531417214	chr8:1878925-1878926	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs551461330	chr8:1878929-1878930	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs73671058	chr8:1878950-1878951	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181318218	chr8:1878953-1878954	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs547377311	chr8:1878967-1878968	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567437712	chr8:1878992-1878993	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541143074	chr8:1878996-1878997	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs536191652	chr8:1878997-1878998	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs34235306	chr8:1879006-1879007	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs142174256	chr8:1879032-1879033	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs377488757	chr8:1879035-1879036	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs185531161	chr8:1879050-1879051	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs76360162	chr8:1879063-1879064	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1845400-1879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
3	chr8:1857000-1890600	Weak transcription	Psoas Muscle	Psoas
4	chr8:1862200-1880400	Weak transcription	Fetal Heart	heart
5	chr8:1867000-1883600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:1867400-1883400	Weak transcription	Hela-S3	cervix
7	chr8:1868000-1878400	Weak transcription	Esophagus	oesophagus
8	chr8:1868000-1902400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:1868400-1878800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:1868800-1890400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:1869000-1889400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:1869000-1891800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:1869200-1890200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:1869800-1890400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:1871400-1885800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:1871600-1881400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:1871600-1889000	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr8:1871600-1907400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:1871800-1880200	Strong transcription	Right Ventricle	heart
20	chr8:1871800-1880400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:1871800-1881000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:1871800-1881000	Strong transcription	Aorta	Aorta
23	chr8:1871800-1886000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:1871800-1887200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:1871800-1889000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr8:1871800-1889400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:1872000-1879400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:1872000-1880200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:1872000-1885600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:1872000-1886200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:1872200-1878400	Strong transcription	HUVEC	blood vessel
32	chr8:1872400-1885200	Weak transcription	Fetal Brain Male	brain
33	chr8:1872400-1885600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:1872800-1883200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:1873000-1880400	Weak transcription	Brain Angular Gyrus	brain
36	chr8:1873400-1885200	Strong transcription	Ovary	ovary
37	chr8:1873800-1878400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:1873800-1880200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:1873800-1881800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:1873800-1885800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:1873800-1894800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:1874000-1882600	Weak transcription	NHDF-Ad	bronchial
43	chr8:1874000-1885800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:1874200-1878800	Weak transcription	NHEK	skin
45	chr8:1874600-1885000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:1874800-1879600	Weak transcription	Brain Anterior Caudate	brain
47	chr8:1875200-1883600	Weak transcription	Placenta	Placenta
48	chr8:1875400-1878800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:1875800-1879400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr8:1876000-1879200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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