Variant report

Variant	esv3431231
Chromosome Location	chr7:16237053-16238649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16237727..16240035-chr7:16245292..16248267,2	K562	blood:
2	chr7:16195841..16198251-chr7:16237665..16240574,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189602463	chr7:16237061-16237062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536416654	chr7:16237065-16237066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572530417	chr7:16237066-16237067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116869225	chr7:16237101-16237102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557710975	chr7:16237105-16237106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543165325	chr7:16237126-16237127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10232023	chr7:16237180-16237181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113463085	chr7:16237197-16237198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561226183	chr7:16237208-16237209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113363531	chr7:16237210-16237211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574052800	chr7:16237261-16237262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138029897	chr7:16237347-16237348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563153278	chr7:16237351-16237352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578215424	chr7:16237352-16237353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545579512	chr7:16237398-16237399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142561039	chr7:16237400-16237401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528157559	chr7:16237426-16237427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13245605	chr7:16237431-16237432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561469756	chr7:16237463-16237464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528813516	chr7:16237468-16237469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71540739	chr7:16237472-16237473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149358140	chr7:16237487-16237488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539400817	chr7:16237492-16237493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375410542	chr7:16237514-16237515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566586129	chr7:16237539-16237540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533997047	chr7:16237540-16237541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555848920	chr7:16237550-16237551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574188948	chr7:16237552-16237553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538230308	chr7:16237584-16237585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556329580	chr7:16237631-16237632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578179948	chr7:16237640-16237641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13245843	chr7:16237689-16237690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545410238	chr7:16237745-16237746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560855023	chr7:16237875-16237876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527241964	chr7:16237886-16237887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13311519	chr7:16237988-16237989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144658771	chr7:16238029-16238030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375007166	chr7:16238046-16238047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528996285	chr7:16238047-16238048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7812252	chr7:16238138-16238139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562375335	chr7:16238274-16238275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554336821	chr7:16238343-16238344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11415283	chr7:16238350-16238351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6946244	chr7:16238365-16238366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566773213	chr7:16238368-16238369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527440436	chr7:16238390-16238391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375160810	chr7:16238412-16238413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567756833	chr7:16238413-16238414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180945204	chr7:16238430-16238431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556505181	chr7:16238502-16238503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16234000-16238400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:16234400-16238400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:16234400-16238600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:16234800-16244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:16237000-16238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:16238200-16239000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:16238400-16239000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:16238400-16239800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:16238600-16238800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr7:16238600-16239000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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