Variant report

Variant	rs4936523
Chromosome Location	chr11:120470159-120470160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10790388	0.82[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10892588	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11600274	0.85[ASN][1000 genomes]
rs11601552	0.81[ASN][1000 genomes]
rs11605735	0.81[ASN][1000 genomes]
rs12278532	0.80[ASN][1000 genomes]
rs1320721	0.83[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs34759019	0.81[ASN][1000 genomes]
rs34884722	0.82[ASN][1000 genomes]
rs4245037	0.88[AFR][1000 genomes]
rs4331108	0.88[ASN][1000 genomes]
rs4367952	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4414229	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4611216	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4936522	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4936525	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4936526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4936529	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6589819	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6589820	0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6589821	0.85[ASN][1000 genomes]
rs7101412	0.83[EUR][1000 genomes]
rs7111020	0.82[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs7127199	0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs7934084	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7947677	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][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	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	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120463200-120470200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:120463200-120470400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:120463400-120470200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:120463400-120470800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:120467800-120471400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:120468600-120472400	Weak transcription	Fetal Brain Female	brain
7	chr11:120468600-120479400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:120468600-120479400	Weak transcription	Brain Substantia Nigra	brain
9	chr11:120468800-120471000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:120468800-120471800	Enhancers	GM12878-XiMat	blood
11	chr11:120469000-120470200	Enhancers	K562	blood
12	chr11:120469000-120473000	Enhancers	Fetal Lung	lung
13	chr11:120469400-120470400	Enhancers	Brain Cingulate Gyrus	brain
14	chr11:120469400-120471400	Bivalent Enhancer	Placenta	Placenta
15	chr11:120469400-120472400	Weak transcription	Fetal Kidney	kidney
16	chr11:120469800-120470800	Enhancers	Brain Hippocampus Middle	brain
17	chr11:120469800-120472000	Weak transcription	Ovary	ovary
18	chr11:120470000-120470200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr11:120470000-120470200	Enhancers	Fetal Brain Male	brain
20	chr11:120470000-120470400	Enhancers	Fetal Intestine Small	intestine
21	chr11:120470000-120471400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:120470000-120471400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:120470000-120471400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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