Variant report

Variant	rs2630519
Chromosome Location	chr8:130405474-130405475
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130402395..130404697-chr8:130404709..130406237,2	K562	blood:
2	chr8:130402395..130404004-chr8:130404709..130406465,2	K562	blood:
3	chr3:98237384..98238009-chr8:130405189..130406045,2	MCF-7	breast:
4	chr8:130403263..130407136-chr8:130409731..130411798,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1347052	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1347053	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1432360	0.81[EUR][1000 genomes]
rs1432361	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1835841	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2579865	0.81[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2579870	0.88[CEU][hapmap];0.86[MEX][hapmap];0.81[EUR][1000 genomes]
rs2579871	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2579872	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2579879	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2630507	0.88[CEU][hapmap];0.86[MEX][hapmap];0.81[EUR][1000 genomes]
rs2630508	0.81[EUR][1000 genomes]
rs2630510	0.81[EUR][1000 genomes]
rs2630514	0.81[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2630518	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2719189	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2719203	0.84[EUR][1000 genomes]
rs2719206	0.81[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2719211	0.81[EUR][1000 genomes]
rs2719212	0.81[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2719214	0.81[EUR][1000 genomes]
rs2719218	0.81[EUR][1000 genomes]
rs7828064	0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7845472	0.81[EUR][1000 genomes]
rs891833	0.82[MEX][hapmap]
rs976912	0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs985688	0.81[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130394800-130411800	Strong transcription	K562	blood
2	chr8:130401800-130405600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:130401800-130405800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:130402600-130406600	Weak transcription	Dnd41	blood

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