Variant report

Variant	rs12225953
Chromosome Location	chr11:119930411-119930412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119924091..119926607-chr11:119929292..119931219,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10431043	0.99[ASN][1000 genomes]
rs10892514	0.88[ASN][1000 genomes]
rs10892519	0.95[ASN][1000 genomes]
rs10892521	0.94[ASN][1000 genomes]
rs10892525	0.80[ASN][1000 genomes]
rs11217630	0.83[ASN][1000 genomes]
rs11217633	0.93[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs11217635	0.87[ASN][1000 genomes]
rs11217636	0.88[ASN][1000 genomes]
rs11217637	0.88[ASN][1000 genomes]
rs11217647	0.94[ASN][1000 genomes]
rs11217665	1.00[ASN][1000 genomes]
rs11217666	1.00[ASN][1000 genomes]
rs11605307	0.80[ASN][1000 genomes]
rs12223988	0.88[ASN][1000 genomes]
rs12573999	0.95[ASN][1000 genomes]
rs12574203	0.90[ASN][1000 genomes]
rs12575245	0.92[ASN][1000 genomes]
rs56745971	0.88[ASN][1000 genomes]
rs56778655	0.89[ASN][1000 genomes]
rs57510602	0.87[ASN][1000 genomes]
rs57589469	0.95[ASN][1000 genomes]
rs58844530	0.99[ASN][1000 genomes]
rs59838357	0.87[ASN][1000 genomes]
rs60270569	0.82[ASN][1000 genomes]
rs60914924	0.92[ASN][1000 genomes]
rs60967975	0.89[ASN][1000 genomes]
rs61218458	0.91[ASN][1000 genomes]
rs61602379	0.92[ASN][1000 genomes]
rs662146	0.80[ASN][1000 genomes]
rs675331	0.80[ASN][1000 genomes]
rs681454	0.80[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	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	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119922600-119936000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:119925000-119934200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:119926000-119930600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:119927800-119932800	Weak transcription	Brain Anterior Caudate	brain
5	chr11:119927800-119932800	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:119928200-119930600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:119928400-119932200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:119928800-119932400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:119929000-119932200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:119929000-119932400	Weak transcription	Fetal Brain Male	brain
11	chr11:119929000-119932400	Weak transcription	Fetal Brain Female	brain
12	chr11:119929200-119932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:119929200-119932800	Weak transcription	HMEC	breast
14	chr11:119929400-119931600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:119929400-119932800	Weak transcription	Esophagus	oesophagus
16	chr11:119929400-119932800	Weak transcription	NHEK	skin
17	chr11:119929400-119934000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:119929600-119930600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:119929600-119930600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr11:119929600-119930600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:119929600-119930600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:119929600-119932000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:119929600-119932000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:119929600-119932200	Weak transcription	Brain Germinal Matrix	brain
25	chr11:119929800-119930800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:119929800-119931800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:119930200-119931400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:119930200-119932200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:119930400-119930600	Enhancers	Fetal Intestine Small	intestine
30	chr11:119930400-119930800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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