Variant report

Variant	esv2533164
Chromosome Location	chr8:107233777-107236814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571500652	chr8:107233807-107233808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138847587	chr8:107233906-107233907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375054128	chr8:107233907-107233908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538519908	chr8:107233946-107233947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139219587	chr8:107233964-107233965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568833765	chr8:107234006-107234007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536394126	chr8:107234053-107234054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75529099	chr8:107234066-107234067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574313349	chr8:107234095-107234096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541599162	chr8:107234107-107234108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7818179	chr8:107234108-107234109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs578213619	chr8:107234123-107234124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7818310	chr8:107234155-107234156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185451565	chr8:107234201-107234202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34348652	chr8:107234209-107234210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530803306	chr8:107234213-107234214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149952217	chr8:107234281-107234282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35748392	chr8:107234282-107234283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561023584	chr8:107234288-107234289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144920342	chr8:107234289-107234290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528307295	chr8:107234300-107234301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs118178455	chr8:107234301-107234302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571323989	chr8:107234346-107234347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7818245	chr8:107234375-107234376	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144665382	chr8:107234569-107234570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373246949	chr8:107234596-107234597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547927972	chr8:107234674-107234675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547043077	chr8:107234689-107234690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62526103	chr8:107234717-107234718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189978560	chr8:107234737-107234738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10089745	chr8:107234782-107234783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548500233	chr8:107234839-107234840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548340134	chr8:107234852-107234853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191703884	chr8:107234873-107234874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374266561	chr8:107234902-107234903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115112739	chr8:107234909-107234910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183846402	chr8:107234918-107234919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13263422	chr8:107234931-107234932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371163337	chr8:107234943-107234944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538987054	chr8:107234965-107234966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12544592	chr8:107234979-107234980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575261766	chr8:107235016-107235017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28551770	chr8:107235039-107235040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560910854	chr8:107235048-107235049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12544655	chr8:107235063-107235064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540329507	chr8:107235064-107235065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188224216	chr8:107235115-107235116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532206170	chr8:107235116-107235117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550925291	chr8:107235144-107235145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562756601	chr8:107235193-107235194	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107231000-107233800	Weak transcription	Aorta	Aorta
2	chr8:107232000-107233800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:107232000-107234000	Weak transcription	HSMMtube	muscle
4	chr8:107232600-107233800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:107232600-107233800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:107233600-107234200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:107233600-107234200	Enhancers	NHLF	lung
8	chr8:107233600-107234400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:107233600-107234400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:107233600-107234400	Enhancers	NH-A	brain
11	chr8:107233800-107234000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:107233800-107234000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:107233800-107234000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:107233800-107234000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:107233800-107234000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:107233800-107234000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:107233800-107234000	Enhancers	Aorta	Aorta
18	chr8:107233800-107234000	Enhancers	Stomach Smooth Muscle	stomach
19	chr8:107233800-107234000	Enhancers	NHDF-Ad	bronchial
20	chr8:107233800-107234000	Enhancers	Osteobl	bone
21	chr8:107233800-107234400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:107234000-107234200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:107234000-107234200	Enhancers	HSMMtube	muscle
24	chr8:107234200-107236600	Weak transcription	NHLF	lung

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