Variant report

Variant	rs630332
Chromosome Location	chr11:119885462-119885463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119880494..119882883-chr11:119885315..119887974,2	K562	blood:

Variant related genes	Relation type
ENSG00000255216	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10790363	0.83[ASN][1000 genomes]
rs11217633	1.00[YRI][hapmap]
rs1790469	0.88[ASN][1000 genomes]
rs1893394	0.89[ASN][1000 genomes]
rs2850802	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs582545	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs584620	0.92[ASN][1000 genomes]
rs587308	0.92[ASN][1000 genomes]
rs587793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs587806	0.86[ASN][1000 genomes]
rs591596	0.81[ASN][1000 genomes]
rs592565	0.81[ASN][1000 genomes]
rs593252	0.97[EUR][1000 genomes]
rs593319	0.83[ASN][1000 genomes]
rs597253	0.83[ASN][1000 genomes]
rs603179	0.98[ASN][1000 genomes]
rs635335	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs640663	0.81[ASN][1000 genomes]
rs643377	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs645233	0.83[ASN][1000 genomes]
rs651202	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs669812	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675246	0.94[EUR][1000 genomes]
rs681569	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs688857	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1037777	chr11:119842515-119898368	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541179	chr11:119842515-119898368	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv524406	chr11:119873404-119893179	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2762948	chr11:119876596-119901422	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119879600-119889200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:119881600-119885800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr11:119881800-119890000	Enhancers	Brain Cingulate Gyrus	brain
4	chr11:119883200-119893400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:119884200-119887000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:119884600-119886400	Weak transcription	Brain Angular Gyrus	brain
7	chr11:119884600-119887800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:119884800-119885800	Weak transcription	Brain Substantia Nigra	brain
9	chr11:119884800-119887400	Weak transcription	Brain Germinal Matrix	brain
10	chr11:119884800-119889200	Enhancers	Brain Hippocampus Middle	brain
11	chr11:119884800-119893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:119884800-119893800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:119885000-119887800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:119885000-119888000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:119885200-119885600	Bivalent Enhancer	Brain Anterior Caudate	brain
16	chr11:119885400-119885600	Bivalent Enhancer	Fetal Stomach	stomach
17	chr11:119885400-119887000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links