Variant report

Variant	rs868055
Chromosome Location	chr7:129435191-129435192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129417115..129420067-chr7:129435011..129437145,2	MCF-7	breast:
2	chr7:129433565..129436796-chr7:129437079..129440076,5	K562	blood:
3	chr7:129418675..129421375-chr7:129432502..129435313,2	K562	blood:
4	chr7:129417027..129423271-chr7:129428076..129437839,16	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12530580	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531622	1.00[CHB][hapmap]
rs12531936	1.00[CHB][hapmap]
rs12532959	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs12533033	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs12534043	1.00[CHB][hapmap]
rs12534061	1.00[CHB][hapmap]
rs12534320	1.00[CHB][hapmap]
rs12535722	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs12535728	1.00[CHB][hapmap]
rs12536424	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs12536978	1.00[CHB][hapmap]
rs12537150	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs12537336	1.00[CHB][hapmap]
rs12537576	1.00[CHB][hapmap]
rs12537660	1.00[CHB][hapmap]
rs12538787	1.00[CHB][hapmap]
rs12540479	1.00[CHB][hapmap]
rs12540517	1.00[CHB][hapmap]
rs12540541	1.00[CHB][hapmap]
rs12690	1.00[CHB][hapmap]
rs1464971	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs1464972	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs1471877	1.00[CHB][hapmap]
rs2631601	1.00[CHB][hapmap]
rs2693727	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs2693737	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2693739	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2727470	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55817702	0.87[ASN][1000 genomes]
rs55846850	0.87[ASN][1000 genomes]
rs55951852	0.87[ASN][1000 genomes]
rs55955026	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55995041	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56069073	0.87[ASN][1000 genomes]
rs56102526	0.87[ASN][1000 genomes]
rs56225229	0.87[ASN][1000 genomes]
rs56322631	0.87[ASN][1000 genomes]
rs56368013	0.87[ASN][1000 genomes]
rs56390630	0.87[ASN][1000 genomes]
rs718925	1.00[CHB][hapmap]
rs718926	1.00[CHB][hapmap]
rs73487527	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7639	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
2	nsv516024	chr7:129387380-129444951	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
3	nsv464721	chr7:129397644-129444951	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
4	nsv608420	chr7:129397644-129444951	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
5	esv1828133	chr7:129403541-129437113	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
6	esv1843969	chr7:129403541-129446598	Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
7	esv1802311	chr7:129406936-129442389	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129432800-129436400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:129433000-129435200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:129433800-129436400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:129433800-129437000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:129434200-129437000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:129434400-129435200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:129435000-129436000	Weak transcription	Fetal Muscle Leg	muscle

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