Variant report

Variant	esv3386656
Chromosome Location	chr8:86255600-86257598
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	chr8:86256360-86256510	GM12801	blood:	n/a	n/a
2	CTCF	chr8:86257022-86257067	Kidney_OC	kidney:	n/a	n/a
3	STAT3	chr8:86257338-86257538	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CA1	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181705146	chr8:86255663-86255664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74735542	chr8:86255674-86255675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561890313	chr8:86255693-86255694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567821295	chr8:86255751-86255752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140416887	chr8:86255793-86255794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529641385	chr8:86255812-86255813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58895193	chr8:86255853-86255854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71522994	chr8:86255879-86255880	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545369138	chr8:86255889-86255890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186698023	chr8:86255896-86255897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1496530	chr8:86255898-86255899	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs367843344	chr8:86255923-86255924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563732219	chr8:86255926-86255927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190054282	chr8:86255930-86255931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371246813	chr8:86255943-86255944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560756757	chr8:86255985-86255986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529849815	chr8:86256018-86256019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540207488	chr8:86256055-86256056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150337208	chr8:86256062-86256063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532040408	chr8:86256207-86256208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34854684	chr8:86256209-86256210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12544332	chr8:86256210-86256211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs372386699	chr8:86256246-86256247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374600275	chr8:86256310-86256311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377559609	chr8:86256311-86256312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56308220	chr8:86256328-86256329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145009883	chr8:86256353-86256354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536855468	chr8:86256375-86256376	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs113843712	chr8:86256384-86256385	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs11780635	chr8:86256393-86256394	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs535481977	chr8:86256403-86256404	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs111614058	chr8:86256405-86256406	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs548263948	chr8:86256423-86256424	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs554412795	chr8:86256424-86256425	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs567906614	chr8:86256450-86256451	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs536845470	chr8:86256451-86256452	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs547010571	chr8:86256452-86256453	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs567129405	chr8:86256453-86256454	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs13273635	chr8:86256457-86256458	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs372545352	chr8:86256474-86256475	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs71273930	chr8:86256480-86256481	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs143069075	chr8:86256488-86256489	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs572813957	chr8:86256497-86256498	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs55810560	chr8:86256501-86256502	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs71522995	chr8:86256515-86256516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549104342	chr8:86256516-86256517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533594084	chr8:86256519-86256520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539994510	chr8:86256526-86256527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575195503	chr8:86256530-86256531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562908369	chr8:86256532-86256533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86244800-86263600	Weak transcription	Fetal Intestine Large	intestine
2	chr8:86253000-86257200	Weak transcription	Psoas Muscle	Psoas
3	chr8:86254600-86256400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:86255000-86255600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:86255000-86256200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:86255400-86256000	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr8:86255400-86257200	Weak transcription	HepG2	liver
8	chr8:86255600-86255800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr8:86255800-86257200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:86256000-86256200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:86256200-86256600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:86256400-86257000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:86256600-86257800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:86257000-86257600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr8:86257000-86257600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:86257200-86257600	Enhancers	Psoas Muscle	Psoas
17	chr8:86257200-86257600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr8:86257200-86257600	Bivalent Enhancer	HepG2	liver

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