Variant report

Variant	rs890579
Chromosome Location	chr2:179263287-179263288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179262549..179264422-chr2:179283581..179285959,2	K562	blood:
2	chr2:179262351..179265177-chr2:179268165..179270732,2	K562	blood:
3	chr2:179260703..179263826-chr2:179272434..179275174,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10201175	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10204497	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1434085	0.96[ASN][1000 genomes]
rs1434095	0.90[CHB][hapmap]
rs1560870	0.80[CEU][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2114581	0.80[CEU][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2276617	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2366601	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4019558	0.80[CEU][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4404314	0.88[EUR][1000 genomes]
rs4894017	0.88[CEU][hapmap];0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6720559	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6757186	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs723841	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs728005	0.96[CEU][hapmap];0.98[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7589565	0.83[ASW][hapmap];0.91[TSI][hapmap]
rs7589679	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs7605289	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs919177	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288019	0.94[ASW][hapmap];0.92[CEU][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.88[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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs890579	CIR1	cis	cerebellum	SCAN
rs890579	FKBP7	cis	lymphoblastoid	seeQTL
rs890579	FKBP7	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179201800-179268200	Weak transcription	HSMM	muscle
2	chr2:179249000-179269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179249600-179264000	Weak transcription	Aorta	Aorta
4	chr2:179250800-179266000	Weak transcription	K562	blood
5	chr2:179251000-179268600	Weak transcription	NH-A	brain
6	chr2:179252200-179264200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:179253200-179269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:179253600-179266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:179255000-179269200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:179255400-179265000	Weak transcription	Psoas Muscle	Psoas
11	chr2:179255600-179268600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:179256000-179269200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:179256200-179269200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:179256200-179269200	Weak transcription	HMEC	breast
15	chr2:179257400-179266800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:179261000-179266800	Weak transcription	NHDF-Ad	bronchial
17	chr2:179261200-179268600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:179262200-179267000	Weak transcription	GM12878-XiMat	blood
19	chr2:179262600-179266800	Weak transcription	HSMMtube	muscle

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