Variant report

Variant	esv1793802
Chromosome Location	chr7:12201693-12204383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1347437	chr7:12201693-12201694	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545716670	chr7:12201696-12201697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562580116	chr7:12201697-12201698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370480497	chr7:12201734-12201735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75639589	chr7:12201744-12201745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541414472	chr7:12201754-12201755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561304933	chr7:12201805-12201806	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs1347436	chr7:12201853-12201854	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145538823	chr7:12201874-12201875	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181707629	chr7:12201886-12201887	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs75045103	chr7:12201893-12201894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs185666236	chr7:12201905-12201906	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs6962780	chr7:12201927-12201928	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537987027	chr7:12201930-12201931	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530238851	chr7:12201951-12201952	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs372868158	chr7:12201999-12202000	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs529330496	chr7:12202011-12202012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549502887	chr7:12202046-12202047	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs11980922	chr7:12202065-12202066	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535033526	chr7:12202074-12202075	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs2060483	chr7:12202081-12202082	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532588967	chr7:12202108-12202109	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570685000	chr7:12202118-12202119	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs540024607	chr7:12202140-12202141	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs539614741	chr7:12202143-12202144	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs11977383	chr7:12202144-12202145	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191607837	chr7:12202150-12202151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs11977384	chr7:12202153-12202154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555063526	chr7:12202207-12202208	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571673334	chr7:12202235-12202236	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs78578338	chr7:12202245-12202246	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12699312	chr7:12202266-12202267	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs533497098	chr7:12202287-12202288	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544106071	chr7:12202313-12202314	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs371561954	chr7:12202349-12202350	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs563686059	chr7:12202378-12202379	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs529535406	chr7:12202396-12202397	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs549466201	chr7:12202407-12202408	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs566214237	chr7:12202426-12202427	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537419080	chr7:12202461-12202462	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551843292	chr7:12202488-12202489	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs76590877	chr7:12202526-12202527	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs539311881	chr7:12202630-12202631	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs556425085	chr7:12202656-12202657	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs73295078	chr7:12202664-12202665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535282249	chr7:12202679-12202680	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147291235	chr7:12202709-12202710	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs183008573	chr7:12202728-12202729	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs565208796	chr7:12202781-12202782	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12699313	chr7:12202801-12202802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
T-cell lymphomas	22341440	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12198600-12208200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:12201000-12202200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:12201000-12202600	Enhancers	NH-A	brain
4	chr7:12201000-12202800	Enhancers	Hela-S3	cervix
5	chr7:12201200-12201800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:12201200-12201800	Enhancers	A549	lung
7	chr7:12201400-12202400	Enhancers	HUVEC	blood vessel
8	chr7:12201600-12202200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:12201600-12202600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:12201600-12202800	Enhancers	Osteobl	bone
11	chr7:12201800-12202200	Flanking Active TSS	A549	lung
12	chr7:12202000-12202600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:12202000-12202600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:12202200-12202600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:12202200-12202600	Active TSS	A549	lung
16	chr7:12202400-12202800	Flanking Active TSS	HUVEC	blood vessel
17	chr7:12202800-12203200	Enhancers	HUVEC	blood vessel

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