Variant report

Variant	esv3433222
Chromosome Location	chr8:87299036-87301084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87291428..87296035-chr8:87300622..87304072,4	MCF-7	breast:
2	chr8:87294678..87297186-chr8:87297891..87299648,2	K562	blood:
3	chr8:87300561..87303014-chr8:87346498..87348749,2	MCF-7	breast:
4	chr8:87300961..87304848-chr8:87353412..87357734,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123124	chromatin interactions
ENSG00000254231	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116935845	chr8:87299042-87299043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559093474	chr8:87299051-87299052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575619195	chr8:87299060-87299061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4413753	chr8:87299072-87299073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561161461	chr8:87299104-87299105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185977109	chr8:87299119-87299120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6981839	chr8:87299121-87299122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376824923	chr8:87299153-87299154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147056119	chr8:87299163-87299164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532185124	chr8:87299175-87299176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375468888	chr8:87299206-87299207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551906609	chr8:87299218-87299219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562259830	chr8:87299225-87299226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190454224	chr8:87299264-87299265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531275469	chr8:87299409-87299410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548244587	chr8:87299420-87299421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568010671	chr8:87299445-87299446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6982317	chr8:87299449-87299450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182228097	chr8:87299467-87299468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374967570	chr8:87299503-87299504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553709413	chr8:87299504-87299505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143921029	chr8:87299510-87299511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539256044	chr8:87299562-87299563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs5892979	chr8:87299568-87299569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559158272	chr8:87299583-87299584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185879605	chr8:87299624-87299625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190487036	chr8:87299689-87299690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555046892	chr8:87299745-87299746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146573990	chr8:87299758-87299759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57718491	chr8:87299767-87299768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117882966	chr8:87299770-87299771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377752460	chr8:87299774-87299775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372234737	chr8:87299777-87299778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376588935	chr8:87299779-87299780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369581999	chr8:87299781-87299782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373780594	chr8:87299782-87299783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377490486	chr8:87299783-87299784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368847550	chr8:87299784-87299785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373088050	chr8:87299785-87299786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs57137072	chr8:87299798-87299799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59545351	chr8:87299810-87299811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58390265	chr8:87299816-87299817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376094113	chr8:87299826-87299827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370141372	chr8:87299830-87299831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10636758	chr8:87299831-87299832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144304356	chr8:87299838-87299839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs59019781	chr8:87299841-87299842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560019751	chr8:87299842-87299843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576699702	chr8:87299848-87299849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564748125	chr8:87299850-87299851	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Schizophrenia	19805367	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87297800-87299200	Weak transcription	Liver	Liver
2	chr8:87299200-87299400	Enhancers	HepG2	liver
3	chr8:87299200-87300600	Enhancers	Liver	Liver
4	chr8:87300600-87302200	Weak transcription	Liver	Liver

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