Variant report

Variant	rs127600
Chromosome Location	chr1:57723084-57723085
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57649341..57651163-chr1:57723010..57724973,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10889033	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11207002	0.84[YRI][hapmap]
rs11587719	0.84[YRI][hapmap]
rs12088611	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1811699	0.80[CEU][hapmap];0.86[YRI][hapmap]
rs1811700	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs197627	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs197632	0.90[ASN][1000 genomes]
rs197635	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197639	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197640	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197641	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197643	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs197644	0.84[YRI][hapmap]
rs197645	0.80[AFR][1000 genomes]
rs197650	0.81[CEU][hapmap]
rs2764661	0.84[ASN][1000 genomes]
rs492986	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs514350	0.91[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs524171	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs552727	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565846	0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs596784	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs606497	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs626210	0.81[ASN][1000 genomes]
rs626212	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs657471	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs6682379	0.90[ASN][1000 genomes]
rs706379	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs7529737	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs924850	0.96[CEU][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2754702	chr1:57716116-57743244	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57712400-57728000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:57712600-57727800	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57712800-57731200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:57717200-57726200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:57718800-57727800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:57720400-57723200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:57720400-57724000	Weak transcription	Fetal Brain Male	brain
8	chr1:57720400-57724000	Weak transcription	Fetal Brain Female	brain
9	chr1:57723000-57724600	Weak transcription	Brain Angular Gyrus	brain

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