Variant report

Variant	esv275274
Chromosome Location	chr7:12126980-12129890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4721027	chr7:12126980-12126981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79683041	chr7:12126998-12126999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538410297	chr7:12127006-12127007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542788999	chr7:12127035-12127036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566454267	chr7:12127041-12127042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7801810	chr7:12127053-12127054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558310147	chr7:12127054-12127055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7782745	chr7:12127071-12127072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375453917	chr7:12127072-12127073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538182813	chr7:12127074-12127075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76647601	chr7:12127127-12127128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7783115	chr7:12127133-12127134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540433517	chr7:12127140-12127141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554655430	chr7:12127152-12127153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182544605	chr7:12127160-12127161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114692816	chr7:12127172-12127173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7801957	chr7:12127178-12127179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs562778246	chr7:12127212-12127213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530814433	chr7:12127220-12127221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113310177	chr7:12127239-12127240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10271169	chr7:12127252-12127253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192345460	chr7:12127277-12127278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546821383	chr7:12127280-12127281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10227694	chr7:12127286-12127287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185537822	chr7:12127301-12127302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552127376	chr7:12127316-12127317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568731466	chr7:12127317-12127318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145493821	chr7:12127363-12127364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549184847	chr7:12127396-12127397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546374664	chr7:12127403-12127404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189448010	chr7:12127407-12127408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151061585	chr7:12127424-12127425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191990059	chr7:12127459-12127460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554114158	chr7:12127482-12127483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373428308	chr7:12127606-12127607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577254581	chr7:12127628-12127629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184494027	chr7:12127636-12127637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4721028	chr7:12127682-12127683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551606396	chr7:12127712-12127713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370245935	chr7:12127775-12127776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571466496	chr7:12127807-12127808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17590151	chr7:12127850-12127851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs75316686	chr7:12127871-12127872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530056234	chr7:12127873-12127874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540412214	chr7:12127910-12127911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370806339	chr7:12127927-12127928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188502520	chr7:12127958-12127959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181118785	chr7:12128006-12128007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77776579	chr7:12128021-12128022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529829172	chr7:12128067-12128068	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12115600-12130400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:12127200-12142600	Weak transcription	Fetal Lung	lung
3	chr7:12129600-12130000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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