Variant report

Variant	esv1820032
Chromosome Location	chr8:1947938-1954464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1920209..1923568-chr8:1948553..1950993,3	MCF-7	breast:
2	chr8:1945649..1948332-chr8:1948376..1949994,2	MCF-7	breast:
3	chr17:8339151..8339685-chr8:1949081..1949841,2	Hela-S3	cervix:
4	chr8:1947283..1948870-chr8:1955148..1956732,2	MCF-7	breast:
5	chr8:1953398..1956111-chr8:1957370..1959528,2	MCF-7	breast:
6	chr8:1906659..1908488-chr8:1948019..1949630,2	MCF-7	breast:
7	chr8:1945649..1948332-chr8:1948376..1949994,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166579	chromatin interactions
ENSG00000270988	chromatin interactions
ENSG00000253764	chromatin interactions
ENSG00000176595	chromatin interactions

Extended variants
information (count: 330 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3824142	chr8:1947938-1947939	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143039811	chr8:1948009-1948010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182131108	chr8:1948026-1948027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73546558	chr8:1948081-1948082	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs5888895	chr8:1948123-1948124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535445619	chr8:1948130-1948131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555386848	chr8:1948163-1948164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569235737	chr8:1948168-1948169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538123455	chr8:1948197-1948198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542146577	chr8:1948240-1948241	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs558448069	chr8:1948246-1948247	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs147109061	chr8:1948269-1948270	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs540865592	chr8:1948302-1948303	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs186723121	chr8:1948308-1948309	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs142396449	chr8:1948324-1948325	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs3779714	chr8:1948327-1948328	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530999771	chr8:1948330-1948331	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs73184752	chr8:1948331-1948332	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185116856	chr8:1948332-1948333	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs34102250	chr8:1948358-1948359	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs544944264	chr8:1948362-1948363	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs144115976	chr8:1948400-1948401	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7008605	chr8:1948416-1948417	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533453178	chr8:1948453-1948454	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150654332	chr8:1948491-1948492	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189587040	chr8:1948497-1948498	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116097235	chr8:1948516-1948517	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549073143	chr8:1948527-1948528	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569130352	chr8:1948542-1948543	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3735877	chr8:1948571-1948572	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs558152807	chr8:1948592-1948593	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs571951937	chr8:1948632-1948633	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs544547450	chr8:1948636-1948637	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs554362837	chr8:1948637-1948638	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs574296771	chr8:1948650-1948651	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs529750734	chr8:1948654-1948655	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs375721798	chr8:1948663-1948664	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs139928266	chr8:1948689-1948690	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs556243512	chr8:1948723-1948724	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs149268412	chr8:1948737-1948738	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs182610654	chr8:1948739-1948740	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs144512270	chr8:1948757-1948758	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs200379533	chr8:1948783-1948784	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs188370652	chr8:1948787-1948788	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs113699265	chr8:1948788-1948789	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs563183862	chr8:1948798-1948799	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs540928428	chr8:1948816-1948817	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs560707878	chr8:1948823-1948824	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs529862920	chr8:1948831-1948832	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs549188129	chr8:1948836-1948837	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1931800-1948800	Weak transcription	Brain Germinal Matrix	brain
2	chr8:1934000-1948800	Weak transcription	Fetal Brain Male	brain
3	chr8:1934600-1948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:1934600-1948800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:1938000-1948400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:1938000-1948600	Weak transcription	Right Atrium	heart
7	chr8:1939800-1948800	Weak transcription	Right Ventricle	heart
8	chr8:1940000-1948400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:1940000-1948800	Weak transcription	Lung	lung
10	chr8:1940200-1948400	Weak transcription	Colonic Mucosa	Colon
11	chr8:1940400-1949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:1940600-1948200	Weak transcription	Pancreas	Pancrea
13	chr8:1940600-1948400	Weak transcription	Brain Angular Gyrus	brain
14	chr8:1940600-1948800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:1940800-1948200	Weak transcription	Primary T cells from cord blood	blood
16	chr8:1940800-1948400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:1941400-1948000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:1941400-1948400	Weak transcription	Fetal Intestine Large	intestine
19	chr8:1943000-1948200	Weak transcription	Thymus	Thymus
20	chr8:1943400-1948600	Weak transcription	Small Intestine	intestine
21	chr8:1944000-1948800	Weak transcription	Fetal Brain Female	brain
22	chr8:1945200-1948600	Enhancers	Fetal Muscle Leg	muscle
23	chr8:1945600-1948800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:1945800-1948200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr8:1946000-1948400	Weak transcription	Fetal Intestine Small	intestine
26	chr8:1946000-1949000	Weak transcription	Psoas Muscle	Psoas
27	chr8:1946200-1948200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:1946200-1948800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:1946400-1948800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:1946400-1949000	Enhancers	Fetal Lung	lung
31	chr8:1946600-1948800	Enhancers	A549	lung
32	chr8:1946800-1948400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:1946800-1948800	Enhancers	Brain Anterior Caudate	brain
34	chr8:1946800-1948800	Enhancers	Fetal Kidney	kidney
35	chr8:1947000-1948800	Enhancers	Brain Substantia Nigra	brain
36	chr8:1947200-1948400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:1947200-1948400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:1947200-1948400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:1947200-1948800	Enhancers	Adipose Nuclei	Adipose
40	chr8:1947400-1948400	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:1947400-1948400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:1947400-1948800	Weak transcription	Osteobl	bone
43	chr8:1947600-1948600	Weak transcription	HSMM	muscle
44	chr8:1947600-1949200	Enhancers	Spleen	Spleen
45	chr8:1947800-1948000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr8:1947800-1948800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:1947800-1948800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr8:1947800-1948800	Weak transcription	HSMMtube	muscle
49	chr8:1948000-1948200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr8:1948000-1948400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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