Variant report

Variant	rs2254654
Chromosome Location	chr6:69378983-69378984
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	chr6:69373114..69378102-chr6:69378626..69382768,5	K562	blood:
2	chr6:69364943..69367696-chr6:69378038..69379934,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1033520	0.80[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10455674	0.90[ASN][1000 genomes]
rs10455676	0.94[ASN][1000 genomes]
rs10484791	0.81[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10945138	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10945139	0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10945141	0.84[JPT][hapmap]
rs10945142	0.85[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap]
rs11752398	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.94[ASN][1000 genomes]
rs11752837	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12154008	0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12192235	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12199251	0.89[ASN][1000 genomes]
rs12200101	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12201488	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12206940	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12210045	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12214149	0.85[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap]
rs13218712	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2073135	0.80[CHB][hapmap];0.88[CHD][hapmap];0.82[ASN][1000 genomes]
rs2246104	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2253759	0.88[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2253866	0.81[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs2585592	0.85[CHB][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2585597	0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2585598	0.81[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.81[ASN][1000 genomes]
rs2585599	0.81[CEU][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2585600	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2585604	0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs2585621	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2585622	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2585623	0.87[EUR][1000 genomes]
rs2585626	0.84[JPT][hapmap]
rs2585627	0.84[JPT][hapmap]
rs2746125	0.81[CEU][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2746127	0.81[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2746130	0.85[EUR][1000 genomes]
rs2746131	0.83[EUR][1000 genomes]
rs2746132	0.85[CHB][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap]
rs2746134	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2746135	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2746137	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2746140	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2746141	0.92[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2802676	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2802677	0.85[EUR][1000 genomes]
rs2802680	0.85[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2802683	0.96[CEU][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2802684	0.81[CEU][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2802687	0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2802688	0.81[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802689	0.96[CEU][hapmap];0.94[JPT][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2802691	0.81[CEU][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap]
rs2802693	0.88[ASW][hapmap];0.85[CEU][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.83[TSI][hapmap];0.81[YRI][hapmap]
rs2802694	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs2802701	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs3121775	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs41328149	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs4358587	0.84[ASN][1000 genomes]
rs4507548	0.84[ASN][1000 genomes]
rs6931354	0.84[JPT][hapmap]
rs715294	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7745837	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7768591	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1015906	chr6:69376236-69416331	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69352200-69399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:69364200-69399800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:69374800-69382800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:69375000-69382800	Weak transcription	Fetal Lung	lung
5	chr6:69376400-69380200	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:69377400-69379200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:69377600-69379400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr6:69377800-69379400	Enhancers	Brain Anterior Caudate	brain
9	chr6:69378000-69379000	Weak transcription	Brain Substantia Nigra	brain
10	chr6:69378400-69379000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:69378800-69379400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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