Variant report

Variant	rs11952111
Chromosome Location	chr5:118881069-118881070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10051019	0.84[EUR][1000 genomes]
rs10073818	0.84[EUR][1000 genomes]
rs11539471	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11746780	0.91[EUR][1000 genomes]
rs11957255	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959717	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1388106	0.91[EUR][1000 genomes]
rs17145469	0.91[EUR][1000 genomes]
rs17145471	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145473	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17145475	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17145476	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17145477	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2560717	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560718	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678067	1.00[ASN][1000 genomes]
rs28943596	0.95[EUR][1000 genomes]
rs34338122	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3850201	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4895194	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4895195	0.87[EUR][1000 genomes]
rs56411336	0.93[EUR][1000 genomes]
rs57218593	0.93[EUR][1000 genomes]
rs59034186	0.93[EUR][1000 genomes]
rs59119324	0.93[EUR][1000 genomes]
rs60497431	0.91[EUR][1000 genomes]
rs60796985	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61093477	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61412235	0.95[EUR][1000 genomes]
rs66462865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66534333	0.95[EUR][1000 genomes]
rs66831568	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs67990368	0.93[EUR][1000 genomes]
rs68024523	0.95[EUR][1000 genomes]
rs68126620	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72788177	0.80[EUR][1000 genomes]
rs72788186	0.91[EUR][1000 genomes]
rs72788194	0.93[EUR][1000 genomes]
rs72788197	0.91[EUR][1000 genomes]
rs72788199	0.91[EUR][1000 genomes]
rs72790203	0.95[EUR][1000 genomes]
rs72790207	0.98[EUR][1000 genomes]
rs72790214	0.89[EUR][1000 genomes]
rs72790217	0.85[EUR][1000 genomes]
rs72790221	0.89[EUR][1000 genomes]
rs72790222	0.89[EUR][1000 genomes]
rs9327103	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv882777	chr5:118870452-118981480	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118866000-118883200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:118874800-118890200	Weak transcription	Fetal Heart	heart
3	chr5:118877400-118881600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:118878600-118882000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:118878800-118881400	Weak transcription	Gastric	stomach
6	chr5:118878800-118881600	Weak transcription	Dnd41	blood
7	chr5:118878800-118881800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:118878800-118885600	Weak transcription	Fetal Stomach	stomach
9	chr5:118878800-118886800	Weak transcription	Aorta	Aorta
10	chr5:118878800-118888600	Weak transcription	Ovary	ovary
11	chr5:118879000-118884200	Weak transcription	Lung	lung
12	chr5:118879000-118884600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:118879000-118885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:118879000-118885200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:118879000-118891200	Weak transcription	Pancreas	Pancrea
16	chr5:118879200-118881600	Weak transcription	Primary B cells from cord blood	blood
17	chr5:118879200-118882000	Weak transcription	Liver	Liver
18	chr5:118879200-118887600	Weak transcription	Adipose Nuclei	Adipose
19	chr5:118879200-118892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:118879400-118883400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:118880000-118881400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:118880200-118881400	Enhancers	Brain Angular Gyrus	brain
23	chr5:118880200-118881400	Enhancers	Brain Anterior Caudate	brain
24	chr5:118881000-118881200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:118881000-118881200	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:118881000-118881200	Enhancers	Brain Substantia Nigra	brain
27	chr5:118881000-118881400	Enhancers	H1 Cell Line	embryonic stem cell

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