Variant report

Variant	rs2708635
Chromosome Location	chr7:129607187-129607188
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	chr7:129601485..129603428-chr7:129606643..129609932,3	K562	blood:
2	chr7:129606360..129608492-chr7:129608705..129610885,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207184	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];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2140874	0.80[CEU][hapmap];1.00[CHB][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2692445	0.87[ASN][1000 genomes]
rs2692446	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2692447	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692449	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2708639	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.85[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708643	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2708644	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2727509	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2727511	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]
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];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73473720	0.87[AMR][1000 genomes];1.00[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:12 , 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	chr7:129606600-129608600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:129607000-129607200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:129607000-129607200	Enhancers	K562	blood
9	chr7:129607000-129607400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:129607000-129607400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:129607000-129607400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:129607000-129607400	Enhancers	Hela-S3	cervix

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