Variant report

Variant	rs7701108
Chromosome Location	chr5:12294101-12294102
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:12284837..12287106-chr5:12292943..12295219,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10065011	0.83[EUR][1000 genomes]
rs10072442	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10073418	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10078438	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10078440	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10078508	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10474947	0.81[ASN][1000 genomes]
rs10513107	0.81[ASN][1000 genomes]
rs11133703	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11133710	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11739626	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11741576	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11745148	0.81[EUR][1000 genomes]
rs11746644	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11955624	0.81[AMR][1000 genomes]
rs12332512	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12514692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12515325	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12520542	0.81[AMR][1000 genomes]
rs12523517	0.82[ASN][1000 genomes]
rs13155688	0.81[AMR][1000 genomes]
rs13159540	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13166759	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13181463	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16902166	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2109007	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2215205	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2400150	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34035764	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35023099	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35086429	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4440360	0.84[ASN][1000 genomes]
rs4464692	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4552595	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58300588	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67479936	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6879027	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6887689	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6888210	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6888233	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6892563	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7700684	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700838	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705498	0.85[EUR][1000 genomes]
rs7728133	0.81[AMR][1000 genomes]
rs7728564	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7729412	0.84[AMR][1000 genomes]
rs9312796	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016098	chr5:12042741-12310988	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1025096	chr5:12049731-12778382	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv537660	chr5:12049731-12778382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv880704	chr5:12132401-12338203	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv880364	chr5:12153033-12330841	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1031406	chr5:12231297-12305842	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1030580	chr5:12254774-12364629	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv527153	chr5:12261596-12310717	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv520904	chr5:12263215-12310717	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1015676	chr5:12276531-12540904	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv427711	chr5:12285375-12747819	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1026529	chr5:12285675-12387812	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1017000	chr5:12285675-12451819	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv537664	chr5:12285675-12451819	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12293200-12294800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:12293200-12295400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr5:12293800-12295400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr5:12294000-12295200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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