Variant report

Variant	rs12987101
Chromosome Location	chr2:178571367-178571368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178416053..178418708-chr2:178570239..178572777,3	MCF-7	breast:
2	chr2:178556581..178559111-chr2:178571009..178573713,2	K562	blood:
3	chr2:178561207..178563093-chr2:178570078..178571660,2	MCF-7	breast:
4	chr2:178570926..178572812-chr2:178573756..178576490,2	K562	blood:

Variant related genes	Relation type
ENSG00000196659	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1004541	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs1004542	0.85[EUR][1000 genomes]
rs10192481	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10201180	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs10497489	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10930805	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10930806	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11684634	0.80[CEU][hapmap];0.87[GIH][hapmap]
rs12989020	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13012431	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031632	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13428806	0.80[CEU][hapmap];0.92[GIH][hapmap];0.86[EUR][1000 genomes]
rs1344916	0.81[EUR][1000 genomes]
rs1344925	0.80[CEU][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs1347731	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1370662	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs1370663	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs1370664	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1438037	0.81[EUR][1000 genomes]
rs1438038	0.81[EUR][1000 genomes]
rs1438039	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs1438048	0.80[CEU][hapmap];0.87[GIH][hapmap]
rs1438054	1.00[JPT][hapmap]
rs1469972	0.85[EUR][1000 genomes]
rs1469973	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs1561319	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs1561320	0.80[CEU][hapmap]
rs16865645	0.80[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs16865726	0.81[EUR][1000 genomes]
rs17400512	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866208	0.81[EUR][1000 genomes]
rs1866209	0.80[CEU][hapmap];0.87[GIH][hapmap];0.81[EUR][1000 genomes]
rs1866210	0.80[CEU][hapmap];0.87[GIH][hapmap];0.81[EUR][1000 genomes]
rs1975321	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs1975322	0.85[EUR][1000 genomes]
rs1975324	0.81[EUR][1000 genomes]
rs2033760	0.85[EUR][1000 genomes]
rs2164857	0.80[CEU][hapmap];0.87[GIH][hapmap]
rs2164860	0.85[EUR][1000 genomes]
rs2365889	0.81[EUR][1000 genomes]
rs2886424	1.00[JPT][hapmap]
rs2886498	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs34952652	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3731809	0.85[EUR][1000 genomes]
rs3754993	0.80[CEU][hapmap];0.87[GIH][hapmap]
rs3770023	0.83[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs3770028	0.80[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3770034	0.80[CEU][hapmap];0.87[GIH][hapmap];0.81[EUR][1000 genomes]
rs3770042	0.81[EUR][1000 genomes]
rs4893839	0.80[CEU][hapmap];0.87[GIH][hapmap];0.81[EUR][1000 genomes]
rs4893840	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs4893980	1.00[JPT][hapmap]
rs4893981	1.00[JPT][hapmap]
rs4893984	1.00[JPT][hapmap]
rs4893985	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs6433693	0.81[EUR][1000 genomes]
rs6718702	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6739583	0.86[ASW][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs6756240	0.81[EUR][1000 genomes]
rs6760930	0.81[EUR][1000 genomes]
rs749207	0.81[EUR][1000 genomes]
rs749208	0.80[CEU][hapmap]
rs7596360	1.00[JPT][hapmap]
rs934809	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs998059	0.80[CEU][hapmap];0.87[GIH][hapmap];0.81[EUR][1000 genomes]
rs998060	0.81[EUR][1000 genomes]
rs998061	0.81[EUR][1000 genomes]
rs999218	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv431812	chr2:178525371-178584470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007925	chr2:178535922-178577002	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv870023	chr2:178545623-178581407	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1005854	chr2:178546907-178586608	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2762967	chr2:178546919-178577002	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1005991	chr2:178550049-178577002	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1003983	chr2:178551958-178577002	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178558200-178576600	Weak transcription	Pancreas	Pancrea
2	chr2:178563000-178574800	Weak transcription	Fetal Muscle Leg	muscle

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