Variant report

Variant	esv3369428
Chromosome Location	chr7:12389389-12389718
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	chr7:12382924..12384916-chr7:12389053..12391966,2	K562	blood:
2	chr7:12389607..12392285-chr7:12392419..12394302,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564542512	chr7:12389389-12389390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73296587	chr7:12389413-12389414	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs386710419	chr7:12389426-12389427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572889574	chr7:12389456-12389457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186669564	chr7:12389464-12389465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557764712	chr7:12389503-12389504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148265578	chr7:12389508-12389509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189932919	chr7:12389520-12389521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543212967	chr7:12389591-12389592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141267436	chr7:12389612-12389613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181152176	chr7:12389614-12389615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550233155	chr7:12389626-12389627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567386272	chr7:12389660-12389661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186120637	chr7:12389684-12389685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10280000	chr7:12389698-12389699	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs189659443	chr7:12389705-12389706	Weak transcription Strong 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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:12363800-12392800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:12368200-12433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:12377000-12408000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:12380600-12393400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:12381800-12390400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:12381800-12429000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:12382800-12390800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:12383400-12401800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:12385400-12395200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:12385600-12390800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:12385600-12418000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:12385800-12390000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:12385800-12390200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:12385800-12391400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:12386000-12390200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:12389200-12391600	Strong transcription	K562	blood

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