Variant report

Variant	esv19686
Chromosome Location	chr7:11281903-11282480
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	chr7:11267788..11269326-chr7:11281868..11283883,2	K562	blood:
2	chr7:11282275..11284554-chr7:11292723..11294327,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230333	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561604168	chr7:11281904-11281905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542368856	chr7:11281912-11281913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115295901	chr7:11281957-11281958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149553625	chr7:11281985-11281986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2040801	chr7:11282031-11282032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533408644	chr7:11282037-11282038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550053678	chr7:11282083-11282084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144226192	chr7:11282128-11282129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574984785	chr7:11282153-11282154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181955133	chr7:11282169-11282170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540535008	chr7:11282177-11282178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117738551	chr7:11282209-11282210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566005696	chr7:11282222-11282223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535144382	chr7:11282232-11282233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116591603	chr7:11282250-11282251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577119451	chr7:11282258-11282259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546060467	chr7:11282285-11282286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184805127	chr7:11282322-11282323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576312339	chr7:11282345-11282346	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541442427	chr7:11282359-11282360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10440955	chr7:11282369-11282370	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4620184	chr7:11282387-11282388	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188880949	chr7:11282392-11282393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4377852	chr7:11282401-11282402	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs142214703	chr7:11282408-11282409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs62438727	chr7:11282420-11282421	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs2353796	chr7:11282439-11282440	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs529607378	chr7:11282444-11282445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4377853	chr7:11282469-11282470	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11274800-11283800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:11277000-11292600	Weak transcription	Stomach Mucosa	stomach
3	chr7:11277800-11291600	Weak transcription	Liver	Liver
4	chr7:11277800-11293800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:11277800-11305400	Weak transcription	Adipose Nuclei	Adipose

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