Variant report

Variant	rs2727511
Chromosome Location	chr7:129605957-129605958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129591308..129593154-chr7:129604322..129606324,2	K562	blood:
2	chr7:129605104..129607003-chr7:129615117..129617382,2	MCF-7	breast:
3	chr7:129603729..129606514-chr7:129609677..129611589,2	MCF-7	breast:
4	chr7:129591339..129593031-chr7:129604334..129607055,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186591	Chromatin interaction
ENSG00000244036	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1045897	0.81[ASN][1000 genomes]
rs13239978	0.81[AMR][1000 genomes]
rs1965542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2140874	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2692445	0.87[ASN][1000 genomes]
rs2692446	0.94[ASN][1000 genomes]
rs2692447	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692449	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2708639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708643	0.83[AMR][1000 genomes]
rs2708644	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2727509	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34438031	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34463221	0.87[ASN][1000 genomes]
rs34629832	0.87[ASN][1000 genomes]
rs35182759	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35793528	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6955829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73473720	0.87[AMR][1000 genomes];0.94[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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129592800-129608600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:129593400-129608400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:129598800-129629600	Weak transcription	Right Atrium	heart
4	chr7:129600000-129608600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:129600000-129608600	Weak transcription	A549	lung
6	chr7:129601200-129607000	Weak transcription	Hela-S3	cervix

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