Variant report

Variant	esv12330
Chromosome Location	chr11:6121495-6121968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10839513	chr11:6121496-6121497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34481020	chr11:6121550-6121551	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184219533	chr11:6121554-6121555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546221047	chr11:6121568-6121569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35349232	chr11:6121572-6121573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs5005636	chr11:6121589-6121590	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35938381	chr11:6121601-6121602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188504918	chr11:6121603-6121604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534058539	chr11:6121604-6121605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150000439	chr11:6121614-6121615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs5005637	chr11:6121618-6121619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs115190120	chr11:6121626-6121627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5005638	chr11:6121633-6121634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs5005639	chr11:6121675-6121676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544708355	chr11:6121731-6121732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559681032	chr11:6121748-6121749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5005640	chr11:6121801-6121802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533401398	chr11:6121814-6121815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181254933	chr11:6121816-6121817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35515581	chr11:6121820-6121821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs5005642	chr11:6121821-6121822	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs5005643	chr11:6121865-6121866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs5005644	chr11:6121892-6121893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148040921	chr11:6121916-6121917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186238000	chr11:6121929-6121930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572625179	chr11:6121946-6121947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141758599	chr11:6121964-6121965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6144194	chr11:6121965-6121966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386750252	chr11:6121966-6121967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200490266	chr11:6121967-6121968	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6120400-6122000	Enhancers	Primary T cells from cord blood	blood
2	chr11:6121000-6122000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:6121200-6122000	Enhancers	Monocytes-CD14+_RO01746	blood

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