Variant report

Variant	rs2660642
Chromosome Location	chr1:209494843-209494844
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	chr1:209493055..209495398-chr1:209509454..209511387,2	K562	blood:
2	chr1:209486791..209489026-chr1:209492527..209494876,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1021993	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1027821	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1027823	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1354854	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1395749	0.85[AFR][1000 genomes]
rs1395750	0.91[AFR][1000 genomes]
rs1395751	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1395756	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1507341	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1542981	0.94[AFR][1000 genomes]
rs1553622	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1553623	0.84[AFR][1000 genomes]
rs1857966	0.80[CHB][hapmap]
rs2245283	0.86[AFR][1000 genomes]
rs2245287	0.85[AFR][1000 genomes]
rs2356722	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs2489649	0.86[AFR][1000 genomes]
rs2660636	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2660637	0.81[AFR][1000 genomes]
rs2660640	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2660643	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2843167	0.81[AMR][1000 genomes]
rs2843168	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6661759	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs6674103	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6674309	0.88[EUR][1000 genomes]
rs6685289	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6685498	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs906347	0.84[CEU][hapmap];0.85[CHB][hapmap];0.91[EUR][1000 genomes]
rs906348	0.84[CEU][hapmap];0.95[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs906349	0.91[EUR][1000 genomes]
rs906350	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[EUR][1000 genomes]
rs906351	0.84[CEU][hapmap];0.80[CHB][hapmap];0.91[EUR][1000 genomes]
rs925077	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs937874	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950890	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:209492800-209497200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:209493000-209498600	Weak transcription	Fetal Brain Male	brain
3	chr1:209493200-209496600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:209493200-209500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:209493400-209496600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:209493400-209496600	Weak transcription	HMEC	breast
7	chr1:209493400-209496600	Weak transcription	NHEK	skin
8	chr1:209493400-209496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:209494600-209495200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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