Variant report

Variant	esv1804055
Chromosome Location	chr8:107234375-107240209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7818245	chr8:107234375-107234376	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144665382	chr8:107234569-107234570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373246949	chr8:107234596-107234597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547927972	chr8:107234674-107234675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547043077	chr8:107234689-107234690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62526103	chr8:107234717-107234718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189978560	chr8:107234737-107234738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10089745	chr8:107234782-107234783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548500233	chr8:107234839-107234840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548340134	chr8:107234852-107234853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191703884	chr8:107234873-107234874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374266561	chr8:107234902-107234903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115112739	chr8:107234909-107234910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183846402	chr8:107234918-107234919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13263422	chr8:107234931-107234932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371163337	chr8:107234943-107234944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538987054	chr8:107234965-107234966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12544592	chr8:107234979-107234980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575261766	chr8:107235016-107235017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28551770	chr8:107235039-107235040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560910854	chr8:107235048-107235049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12544655	chr8:107235063-107235064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540329507	chr8:107235064-107235065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188224216	chr8:107235115-107235116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532206170	chr8:107235116-107235117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550925291	chr8:107235144-107235145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562756601	chr8:107235193-107235194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529982232	chr8:107235194-107235195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368179022	chr8:107235195-107235196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566298417	chr8:107235203-107235204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28409835	chr8:107235220-107235221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551975114	chr8:107235229-107235230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571856154	chr8:107235328-107235329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538826223	chr8:107235334-107235335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73698667	chr8:107235357-107235358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575545766	chr8:107235373-107235374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536518602	chr8:107235375-107235376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73301459	chr8:107235422-107235423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573147467	chr8:107235429-107235430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540769835	chr8:107235437-107235438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565215195	chr8:107235443-107235444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575541940	chr8:107235467-107235468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544435973	chr8:107235555-107235556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566124583	chr8:107235584-107235585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375239374	chr8:107235607-107235608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71522775	chr8:107235628-107235629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111500760	chr8:107235651-107235652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542105685	chr8:107235653-107235654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144571839	chr8:107235684-107235685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555792644	chr8:107235691-107235692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
Gastric cancer	17908304	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
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
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
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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107233600-107234400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:107233600-107234400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:107233600-107234400	Enhancers	NH-A	brain
4	chr8:107233800-107234400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:107234200-107236600	Weak transcription	NHLF	lung
6	chr8:107238200-107238600	Enhancers	Cortex derived primary cultured neurospheres	brain

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