Variant report

Variant	rs4951434
Chromosome Location	chr1:212049349-212049350
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	chr1:212044302..212046599-chr1:212047818..212049772,2	K562	blood:
2	chr1:212046115..212050313-chr1:212051402..212055814,5	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10158561	0.89[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap]
rs10465691	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10863930	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10863932	0.83[EUR][1000 genomes]
rs11119806	0.89[CHB][hapmap]
rs11119821	0.99[ASN][1000 genomes]
rs11119822	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12038038	0.80[CEU][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap]
rs1539195	0.80[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap]
rs2002081	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2788119	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2788124	0.89[CHB][hapmap]
rs2788126	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2788127	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2788132	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2788143	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2788147	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2808378	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2808379	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28790701	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs28865046	0.88[ASN][1000 genomes]
rs2970582	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2970587	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2998418	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3795834	0.83[CHB][hapmap]
rs4480424	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs4951425	0.89[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap]
rs4951431	0.84[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap]
rs4951550	0.83[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap]
rs4951552	0.80[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap]
rs4951553	0.83[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap]
rs4951554	0.80[AMR][1000 genomes]
rs6540712	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6680326	0.89[CHB][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap]
rs6685247	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6698841	0.83[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap]
rs7515713	0.89[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap]
rs7518285	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs7518833	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs7533928	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7533951	0.81[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap]
rs947438	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs9651110	0.84[CHB][hapmap];0.82[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762218	chr1:212046447-212087682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212048400-212049800	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:212048600-212050400	Weak transcription	Adipose Nuclei	Adipose

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