Variant report

Variant	rs2049351
Chromosome Location	chr7:39925469-39925470
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	chr7:39924076..39926438-chr7:39989688..39991312,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10225311	0.90[EUR][1000 genomes]
rs10270355	0.85[EUR][1000 genomes]
rs11760665	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11975808	0.86[EUR][1000 genomes]
rs11983868	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12701774	0.86[EUR][1000 genomes]
rs12701776	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12701777	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12701778	0.90[EUR][1000 genomes]
rs1403825	0.83[EUR][1000 genomes]
rs1523711	0.90[EUR][1000 genomes]
rs2049350	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2329608	0.88[EUR][1000 genomes]
rs2329610	0.90[EUR][1000 genomes]
rs4720343	0.90[EUR][1000 genomes]
rs4723914	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4723915	0.87[EUR][1000 genomes]
rs6462952	0.87[EUR][1000 genomes]
rs6462953	0.81[EUR][1000 genomes]
rs6947780	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6949575	0.87[EUR][1000 genomes]
rs6969026	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6979770	0.90[EUR][1000 genomes]
rs7777774	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7787480	0.86[EUR][1000 genomes]
rs7789497	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9638946	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv887974	chr7:39827400-39956829	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39922800-39927800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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