Variant report

Variant	esv3417044
Chromosome Location	chr7:16055577-16057575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574847788	chr7:16055629-16055630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75077383	chr7:16055637-16055638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78715587	chr7:16055639-16055640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564150611	chr7:16055669-16055670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116776810	chr7:16055674-16055675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540551130	chr7:16055701-16055702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551942327	chr7:16055714-16055715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148431103	chr7:16055720-16055721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536617178	chr7:16055763-16055764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529119626	chr7:16055841-16055842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577308561	chr7:16055867-16055868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562977790	chr7:16055869-16055870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111350005	chr7:16055872-16055873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138383308	chr7:16055885-16055886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551465135	chr7:16055915-16055916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182230088	chr7:16055965-16055966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186076575	chr7:16056021-16056022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142544664	chr7:16056052-16056053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549275475	chr7:16056061-16056062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567473727	chr7:16056062-16056063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556604229	chr7:16056072-16056073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367789826	chr7:16056078-16056079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575232259	chr7:16056113-16056114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150989517	chr7:16056142-16056143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77376180	chr7:16056175-16056176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28375119	chr7:16056231-16056232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577814416	chr7:16056250-16056251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148292273	chr7:16056295-16056296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201303547	chr7:16056331-16056332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540488974	chr7:16056342-16056343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190946416	chr7:16056354-16056355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34347936	chr7:16056356-16056357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139933769	chr7:16056369-16056370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35386445	chr7:16056376-16056377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371359744	chr7:16056399-16056400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116066885	chr7:16056407-16056408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544406688	chr7:16056414-16056415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71851430	chr7:16056415-16056416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200917342	chr7:16056423-16056424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7785394	chr7:16056426-16056427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182858165	chr7:16056451-16056452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376832145	chr7:16056452-16056453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553925246	chr7:16056466-16056467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186237114	chr7:16056474-16056475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10950596	chr7:16056489-16056490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549236789	chr7:16056498-16056499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190304659	chr7:16056518-16056519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201597574	chr7:16056534-16056535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146261379	chr7:16056536-16056537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35857272	chr7:16056537-16056538	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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	19492091	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16050000-16065200	Weak transcription	Osteobl	bone
2	chr7:16053400-16056200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:16054000-16056200	Enhancers	NHDF-Ad	bronchial
4	chr7:16054800-16056400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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