Variant report

Variant	rs7595420
Chromosome Location	chr2:86211495-86211496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86208939..86211667-chr2:86213596..86215398,2	K562	blood:
2	chr2:86210697..86213277-chr2:86217060..86219061,2	K562	blood:
3	chr2:86203874..86206783-chr2:86210443..86213436,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10173155	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10181916	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10189191	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10208184	0.86[ASN][1000 genomes]
rs1036553	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12714161	0.80[EUR][1000 genomes]
rs13397189	0.80[EUR][1000 genomes]
rs1561330	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1866245	0.81[AMR][1000 genomes]
rs2083168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099617	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886885	0.87[ASN][1000 genomes]
rs311564	0.85[ASN][1000 genomes]
rs311576	0.85[ASN][1000 genomes]
rs311578	0.85[ASN][1000 genomes]
rs311579	0.85[ASN][1000 genomes]
rs311585	0.85[ASN][1000 genomes]
rs311588	0.85[ASN][1000 genomes]
rs3937593	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4346389	0.81[AMR][1000 genomes]
rs4480982	0.81[AMR][1000 genomes]
rs4832232	0.83[EUR][1000 genomes]
rs4832233	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6547653	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6547654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6547655	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6713002	0.80[EUR][1000 genomes]
rs717144	0.89[ASN][1000 genomes]
rs7571529	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7586985	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7599326	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7606897	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7607138	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs879649	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs893442	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934829	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934830	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs934831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7595420	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs7595420	IMMT	cis	Whole Blood	GTEx
rs7595420	IMMT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86204000-86221000	Weak transcription	Right Atrium	heart
2	chr2:86205800-86214200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:86207000-86214400	Weak transcription	Adipose Nuclei	Adipose
4	chr2:86207000-86223400	Weak transcription	Liver	Liver
5	chr2:86207600-86219800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:86209000-86215600	Weak transcription	Spleen	Spleen
7	chr2:86211200-86212200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:86211400-86211600	Enhancers	Fetal Muscle Leg	muscle
9	chr2:86211400-86211800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links