Variant report

Variant	rs11217389
Chromosome Location	chr11:119546665-119546666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10892430	1.00[ASN][1000 genomes]
rs10892431	1.00[ASN][1000 genomes]
rs10892432	1.00[ASN][1000 genomes]
rs11217386	1.00[ASN][1000 genomes]
rs11217394	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217395	1.00[AFR][1000 genomes]
rs11217396	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217398	1.00[ASN][1000 genomes]
rs11217399	1.00[ASN][1000 genomes]
rs11217400	1.00[ASN][1000 genomes]
rs11217401	1.00[ASN][1000 genomes]
rs11217402	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217403	1.00[ASN][1000 genomes]
rs11217406	1.00[ASN][1000 genomes]
rs11217407	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217409	1.00[ASN][1000 genomes]
rs11217412	0.93[ASN][1000 genomes]
rs12222517	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12577411	1.00[AFR][1000 genomes]
rs12577412	1.00[AFR][1000 genomes]
rs17123203	1.00[ASN][1000 genomes]
rs57088022	1.00[ASN][1000 genomes]
rs58117702	1.00[ASN][1000 genomes]
rs60865388	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv984471	chr11:119505802-119568473	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119535200-119552600	Weak transcription	HepG2	liver
2	chr11:119537800-119547000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:119541800-119548600	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr11:119541800-119548600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:119541800-119548800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:119541800-119549000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:119542200-119547800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:119542200-119548600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:119542200-119551400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:119542400-119547200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:119542600-119547000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:119542600-119548400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:119542800-119546800	Weak transcription	NH-A	brain
14	chr11:119542800-119547200	Weak transcription	Osteobl	bone
15	chr11:119542800-119547400	Weak transcription	HSMMtube	muscle
16	chr11:119543000-119546800	Weak transcription	HUVEC	blood vessel
17	chr11:119543000-119547000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:119543000-119547200	Weak transcription	NHDF-Ad	bronchial
19	chr11:119543000-119548400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:119543000-119548800	Weak transcription	Ovary	ovary
21	chr11:119543000-119551400	Weak transcription	Fetal Heart	heart
22	chr11:119543000-119551400	Weak transcription	Right Atrium	heart
23	chr11:119543200-119548400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr11:119543200-119551600	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:119543400-119546800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:119543400-119547000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:119543400-119547800	Weak transcription	Fetal Kidney	kidney
28	chr11:119543400-119551000	Weak transcription	Stomach Mucosa	stomach
29	chr11:119543600-119546800	Weak transcription	HSMM	muscle
30	chr11:119543600-119547000	Weak transcription	NHLF	lung
31	chr11:119543600-119547600	Weak transcription	Liver	Liver
32	chr11:119543600-119549400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:119543600-119551400	Weak transcription	Fetal Brain Male	brain
34	chr11:119543800-119547200	Strong transcription	NHEK	skin
35	chr11:119543800-119549400	Strong transcription	Gastric	stomach
36	chr11:119544000-119546800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:119544000-119548200	Strong transcription	Fetal Intestine Large	intestine
38	chr11:119544000-119549200	Strong transcription	Brain Cingulate Gyrus	brain
39	chr11:119544000-119549400	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:119544200-119546800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:119544200-119547000	Strong transcription	HMEC	breast
42	chr11:119544200-119548200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:119544200-119548400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:119544200-119548600	Strong transcription	Brain Germinal Matrix	brain
45	chr11:119544200-119549400	Strong transcription	Right Ventricle	heart
46	chr11:119544400-119547200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:119544400-119547200	Weak transcription	Colonic Mucosa	Colon
48	chr11:119544400-119547400	Weak transcription	Fetal Lung	lung
49	chr11:119544400-119549600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:119544600-119548200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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