Variant report

Variant	rs2009257
Chromosome Location	chr12:122456987-122456988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122456097-122457047	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:
2	chr12:122236856..122239163-chr12:122456320..122458969,2	K562	blood:

Variant related genes	Relation type
BCL7A	TF binding region
ENSG00000110987	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1169076	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1169081	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1169083	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1169084	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1169086	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1169087	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1169089	0.88[YRI][hapmap]
rs1169091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1177588	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1179947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1184893	0.85[ASN][1000 genomes]
rs12578258	0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs12579389	0.81[AMR][1000 genomes]
rs1375653	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1375654	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1375655	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1630699	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1678952	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs1678953	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1678970	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1720030	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1720068	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17852561	0.83[AMR][1000 genomes]
rs1814592	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2018749	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2272133	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2272135	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2309275	0.88[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35252940	0.81[AMR][1000 genomes]
rs55929316	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7313748	0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs745327	0.81[CEU][hapmap];0.87[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs830115	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs830121	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122442600-122458800	Weak transcription	Aorta	Aorta
2	chr12:122443000-122458800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122443400-122458800	Weak transcription	Right Ventricle	heart
4	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
5	chr12:122444600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:122454800-122459000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:122455600-122458800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:122456000-122457600	ZNF genes & repeats	Fetal Thymus	thymus
9	chr12:122456000-122457600	Enhancers	Dnd41	blood
10	chr12:122456400-122457400	Weak transcription	Thymus	Thymus
11	chr12:122456400-122458800	Weak transcription	Pancreas	Pancrea
12	chr12:122456600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:122456800-122458800	Enhancers	Primary B cells from peripheral blood	blood

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