Variant report

Variant	esv3336194
Chromosome Location	chr7:12057977-12060075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566475692	chr7:12057977-12057978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567576599	chr7:12057988-12057989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538734858	chr7:12058019-12058020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191393690	chr7:12058029-12058030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552050383	chr7:12058045-12058046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565897524	chr7:12058060-12058061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13310282	chr7:12058066-12058067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554829092	chr7:12058071-12058072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546983750	chr7:12058113-12058114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554486542	chr7:12058133-12058134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540498472	chr7:12058148-12058149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574492481	chr7:12058161-12058162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554235776	chr7:12058199-12058200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6956188	chr7:12058208-12058209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557333558	chr7:12058249-12058250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562875943	chr7:12058252-12058253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6956325	chr7:12058265-12058266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183748024	chr7:12058286-12058287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62433191	chr7:12058321-12058322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561064617	chr7:12058335-12058336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529879470	chr7:12058351-12058352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569133085	chr7:12058375-12058376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185322872	chr7:12058385-12058386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190233563	chr7:12058397-12058398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117273597	chr7:12058409-12058410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551726914	chr7:12058414-12058415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568526682	chr7:12058438-12058439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79863106	chr7:12058460-12058461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548840649	chr7:12058468-12058469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568707065	chr7:12058478-12058479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200119204	chr7:12058491-12058492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186825217	chr7:12058525-12058526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554081554	chr7:12058550-12058551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78576271	chr7:12058555-12058556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192262307	chr7:12058606-12058607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556565187	chr7:12058619-12058620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576492197	chr7:12058656-12058657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183683593	chr7:12058665-12058666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189078507	chr7:12058666-12058667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10250185	chr7:12058708-12058709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575034338	chr7:12058712-12058713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372166894	chr7:12058713-12058714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371475597	chr7:12058716-12058717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374756404	chr7:12058717-12058718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71027445	chr7:12058737-12058738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112556024	chr7:12058760-12058761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528747523	chr7:12058886-12058887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544022377	chr7:12058887-12058888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561235502	chr7:12058937-12058938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574651023	chr7:12058973-12058974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12057800-12059200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:12059200-12059400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:12059400-12059800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:12059600-12060000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:12059800-12062400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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