Variant report

Variant	rs10892612
Chromosome Location	chr11:120553182-120553183
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	chr11:120547489..120549157-chr11:120552655..120555191,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10736503	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10790389	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10790395	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10790396	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10790397	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10790398	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10790399	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10892608	0.83[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.84[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10892609	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11217956	0.91[CHB][hapmap]
rs11217967	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs11217968	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217969	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217971	0.95[CHB][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11820810	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs12365194	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12574186	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2000868	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2000869	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs2000870	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs35101469	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4417279	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7119539	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7119655	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7119977	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7932158	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7934734	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7935000	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7947520	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054407	chr11:120535570-120630114	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3693392	chr11:120549745-120628012	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10892612	FAM150B	trans	parietal	SCAN
rs10892612	TMEM225	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120551800-120553200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:120551800-120553200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:120551800-120553200	Enhancers	Brain Germinal Matrix	brain
4	chr11:120552000-120553200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr11:120552000-120553200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:120552000-120553200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr11:120552000-120553200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:120552000-120553400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:120552000-120553800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:120552200-120553200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:120552200-120553400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:120552200-120554400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:120552400-120553200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:120552400-120553200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:120552400-120555200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:120553000-120555200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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