Variant report

Variant	rs7130930
Chromosome Location	chr11:71325660-71325661
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10736771	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10792811	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10898387	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898390	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10898391	0.87[ASN][1000 genomes]
rs10898394	0.86[ASN][1000 genomes]
rs10898395	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11234332	0.83[ASN][1000 genomes]
rs11234333	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11234353	0.84[ASN][1000 genomes]
rs11234358	0.85[ASN][1000 genomes]
rs11518713	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12364663	0.81[ASN][1000 genomes]
rs3888289	0.86[ASN][1000 genomes]
rs4081430	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4245445	0.84[ASN][1000 genomes]
rs4417305	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4614476	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4623928	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945066	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6592248	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7119304	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7937575	0.85[ASN][1000 genomes]
rs9665982	0.81[ASN][1000 genomes]
rs9666886	0.83[ASN][1000 genomes]
rs9667045	0.81[ASN][1000 genomes]
rs9667092	0.81[ASN][1000 genomes]
rs9735258	0.81[ASN][1000 genomes]
rs9736578	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1043207	chr11:71293875-71442666	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1037088	chr11:71293875-71538991	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3527986	chr11:71298409-71620955	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3527987	chr11:71298409-71620955	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv1036258	chr11:71299175-71523551	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1041027	chr11:71299175-71527896	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1051879	chr11:71299175-71536860	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1044041	chr11:71299175-71538991	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv2761682	chr11:71299175-71619923	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv555403	chr11:71301189-71430470	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3369271	chr11:71307946-71334603	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv972040	chr11:71315526-71330518	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
15	nsv897901	chr11:71316093-71441301	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv897902	chr11:71316093-71468856	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv897903	chr11:71316093-71523766	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	nsv897904	chr11:71316093-71615727	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	esv1823937	chr11:71321206-71347525	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71324600-71327000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:71325200-71325800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:71325200-71325800	Enhancers	Stomach Mucosa	stomach
4	chr11:71325200-71327000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:71325400-71325800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:71325400-71326000	Enhancers	HMEC	breast
7	chr11:71325400-71326200	Enhancers	Esophagus	oesophagus
8	chr11:71325600-71325800	Enhancers	HepG2	liver
9	chr11:71325600-71327200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:71325600-71327200	Enhancers	NHEK	skin

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