Variant report

Variant	rs2512404
Chromosome Location	chr8:112164746-112164747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:112126432..112126980-chr8:112164515..112165028,2	MCF-7	breast:
2	chr8:112164287..112166378-chr8:112180703..112183075,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10096553	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10102552	0.93[CEU][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10106508	0.87[EUR][1000 genomes]
rs10106880	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10107556	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10107897	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10109355	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10111478	0.87[EUR][1000 genomes]
rs10217003	0.87[EUR][1000 genomes]
rs10505160	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10808444	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955559	0.87[EUR][1000 genomes]
rs10955562	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955563	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955564	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955565	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955566	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955567	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955568	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955572	0.86[ASN][1000 genomes]
rs11786026	0.87[EUR][1000 genomes]
rs12156391	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12676370	0.86[ASN][1000 genomes]
rs12678842	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs12680038	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680509	0.89[ASN][1000 genomes]
rs12681617	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12682144	0.89[ASN][1000 genomes]
rs13249608	0.89[ASN][1000 genomes]
rs13258418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13263317	0.86[ASN][1000 genomes]
rs13268897	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13282566	0.89[ASN][1000 genomes]
rs1427168	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1427181	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1427190	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1529371	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1529372	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1593666	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16881787	0.86[ASN][1000 genomes]
rs16892533	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2195063	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2351548	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2433663	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2433665	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28404327	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28694326	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3021375	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4419838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4455867	0.82[ASN][1000 genomes]
rs4620315	0.84[ASN][1000 genomes]
rs6469345	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6985509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs719232	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7835727	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7843740	0.89[ASN][1000 genomes]
rs890564	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs890565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030494	chr8:111779352-112421812	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv891296	chr8:111952230-112191432	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891299	chr8:111987798-112164746	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv891300	chr8:111987798-112171822	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv891301	chr8:111987798-112191432	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv891302	chr8:111987798-112238390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv891305	chr8:112021630-112171822	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv891306	chr8:112021630-112238390	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv891309	chr8:112071990-112191432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv891310	chr8:112079211-112238390	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv891311	chr8:112088322-112604086	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv891312	chr8:112111911-112238390	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112161200-112165200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:112161400-112165200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:112162400-112165200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:112163400-112164800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr8:112163800-112164800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:112164000-112164800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:112164200-112164800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:112164200-112165000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:112164400-112164800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:112164400-112164800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:112164400-112165200	Genic enhancers	H9 Cell Line	embryonic stem cell

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