Variant report

Variant	rs71613931
Chromosome Location	chr4:130298354-130298355
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	chr4:130289105..130291570-chr4:130297750..130299916,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10518546	0.86[EUR][1000 genomes]
rs11943511	0.86[EUR][1000 genomes]
rs13102645	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13109938	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13128188	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13130195	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13149187	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17014599	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17014611	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17014614	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17014727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17367613	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34010234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34099241	0.82[EUR][1000 genomes]
rs34466472	0.86[EUR][1000 genomes]
rs34864289	0.86[EUR][1000 genomes]
rs34955650	0.86[EUR][1000 genomes]
rs34974459	0.86[EUR][1000 genomes]
rs35004602	0.86[EUR][1000 genomes]
rs35255990	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35524133	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35618244	0.82[EUR][1000 genomes]
rs35796550	0.86[EUR][1000 genomes]
rs35918555	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71613927	0.82[EUR][1000 genomes]
rs71613929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71613932	0.82[EUR][1000 genomes]
rs71613934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv830058	chr4:130136025-130315471	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130297600-130299400	Enhancers	HUVEC	blood vessel
2	chr4:130298000-130298400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:130298000-130298400	Enhancers	HMEC	breast
4	chr4:130298000-130298800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:130298000-130300000	Enhancers	Fetal Heart	heart
6	chr4:130298200-130298400	Flanking Active TSS	NHEK	skin
7	chr4:130298200-130298600	Enhancers	Fetal Stomach	stomach
8	chr4:130298200-130298800	Enhancers	Dnd41	blood
9	chr4:130298200-130299000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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