Variant report

Variant	esv2651820
Chromosome Location	chr8:119667496-119668972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140320942	chr8:119667534-119667535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577376853	chr8:119667543-119667544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187597716	chr8:119667603-119667604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144100310	chr8:119667614-119667615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564557953	chr8:119667781-119667782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529779311	chr8:119667818-119667819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114161097	chr8:119667853-119667854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551957038	chr8:119667859-119667860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73321375	chr8:119667879-119667880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150996166	chr8:119668092-119668093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371608860	chr8:119668103-119668104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66812082	chr8:119668104-119668105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190731249	chr8:119668150-119668151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546503595	chr8:119668167-119668168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367918204	chr8:119668168-119668169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140493862	chr8:119668179-119668180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560440853	chr8:119668256-119668257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150438658	chr8:119668286-119668287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372414593	chr8:119668307-119668308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529180848	chr8:119668320-119668321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73709158	chr8:119668324-119668325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183003528	chr8:119668353-119668354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138133144	chr8:119668406-119668407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187133587	chr8:119668411-119668412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35356124	chr8:119668416-119668417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190249774	chr8:119668431-119668432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547985416	chr8:119668465-119668466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200463166	chr8:119668583-119668584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549211006	chr8:119668590-119668591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577513865	chr8:119668593-119668594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182878738	chr8:119668621-119668622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201466011	chr8:119668646-119668647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151336283	chr8:119668647-119668648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187559134	chr8:119668704-119668705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568977055	chr8:119668714-119668715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553305832	chr8:119668733-119668734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535119566	chr8:119668767-119668768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566449974	chr8:119668769-119668770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373584273	chr8:119668781-119668782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193224411	chr8:119668797-119668798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555020679	chr8:119668868-119668869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562902671	chr8:119668953-119668954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530413945	chr8:119668957-119668958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545438079	chr8:119668961-119668962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119664000-119668600	Weak transcription	HUVEC	blood vessel
2	chr8:119664000-119668800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:119664000-119669200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:119664000-119669800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:119664000-119669800	Weak transcription	HSMMtube	muscle
6	chr8:119664200-119668600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:119664200-119668800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:119664200-119669400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:119664200-119669400	Weak transcription	NHEK	skin
10	chr8:119664400-119668600	Weak transcription	Osteobl	bone
11	chr8:119664400-119669400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:119664400-119669600	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:119665000-119668600	Weak transcription	NHDF-Ad	bronchial
14	chr8:119668600-119670400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:119668600-119670400	Enhancers	NHDF-Ad	bronchial
16	chr8:119668600-119670400	Enhancers	Osteobl	bone
17	chr8:119668600-119670600	Enhancers	HSMM	muscle
18	chr8:119668600-119670600	Enhancers	HUVEC	blood vessel
19	chr8:119668800-119669600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:119668800-119670000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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