Variant report

Variant	esv3515711
Chromosome Location	chr11:9794487-9794989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567550972	chr11:9794504-9794505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191496535	chr11:9794566-9794567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113598795	chr11:9794586-9794587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61876875	chr11:9794587-9794588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139889397	chr11:9794588-9794589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61876876	chr11:9794589-9794590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61876877	chr11:9794591-9794592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61876878	chr11:9794594-9794595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61876879	chr11:9794596-9794597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55934784	chr11:9794612-9794613	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11604687	chr11:9794637-9794638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56223011	chr11:9794639-9794640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55640055	chr11:9794643-9794644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56288058	chr11:9794648-9794649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56238619	chr11:9794649-9794650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56194363	chr11:9794658-9794659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61876881	chr11:9794659-9794660	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs55880605	chr11:9794665-9794666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562114607	chr11:9794678-9794679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575609159	chr11:9794679-9794680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375514429	chr11:9794684-9794685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55893316	chr11:9794695-9794696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56024483	chr11:9794724-9794725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56382801	chr11:9794730-9794731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372428758	chr11:9794736-9794737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564981417	chr11:9794767-9794768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs360152	chr11:9794768-9794769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs575178881	chr11:9794799-9794800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560937744	chr11:9794869-9794870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190703392	chr11:9794915-9794916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9795122	chr11:9794933-9794934	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569995090	chr11:9794939-9794940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9795123	chr11:9794945-9794946	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs9795085	chr11:9794962-9794963	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9780600-9813200	Weak transcription	Small Intestine	intestine
2	chr11:9781400-9795200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:9781400-9800800	Weak transcription	Fetal Brain Female	brain
4	chr11:9781600-9798200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:9781600-9801000	Weak transcription	Primary T cells from cord blood	blood
6	chr11:9781600-9809000	Weak transcription	Fetal Brain Male	brain
7	chr11:9781800-9799200	Weak transcription	Primary B cells from cord blood	blood
8	chr11:9781800-9799200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:9781800-9801200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:9781800-9801600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:9782000-9798000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:9782200-9796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:9782400-9799400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:9782600-9797800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:9784000-9797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:9784000-9801200	Weak transcription	Gastric	stomach
17	chr11:9784400-9797000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:9787400-9796200	Weak transcription	Esophagus	oesophagus
19	chr11:9787400-9796200	Weak transcription	Psoas Muscle	Psoas
20	chr11:9787400-9796800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:9787400-9799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:9787400-9801000	Weak transcription	Aorta	Aorta
23	chr11:9787600-9796000	Weak transcription	Hela-S3	cervix
24	chr11:9787600-9797600	Weak transcription	Fetal Intestine Large	intestine
25	chr11:9787600-9799200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:9787600-9799200	Weak transcription	Fetal Lung	lung
27	chr11:9787800-9795800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:9787800-9796200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:9787800-9801000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:9787800-9805200	Weak transcription	Colonic Mucosa	Colon
31	chr11:9788000-9796000	Weak transcription	Ovary	ovary
32	chr11:9788000-9796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:9788000-9796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:9788000-9796200	Weak transcription	Right Atrium	heart
35	chr11:9788000-9796600	Weak transcription	Pancreas	Pancrea
36	chr11:9788000-9801000	Weak transcription	Lung	lung
37	chr11:9788200-9795400	Weak transcription	Osteobl	bone
38	chr11:9788200-9796200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:9788200-9796200	Weak transcription	Right Ventricle	heart
40	chr11:9788200-9801000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:9788400-9795800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:9788600-9796600	Weak transcription	Fetal Heart	heart
43	chr11:9788600-9801600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:9788800-9796000	Weak transcription	NHEK	skin
45	chr11:9788800-9799000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:9789200-9796000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:9789200-9796000	Weak transcription	Left Ventricle	heart
48	chr11:9789200-9796200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:9789200-9801000	Weak transcription	Spleen	Spleen
50	chr11:9789400-9798000	Weak transcription	Placenta	Placenta

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