Variant report

Variant	rs7298520
Chromosome Location	chr12:122451549-122451550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122450006..122452585-chr12:122472596..122474160,2	K562	blood:
2	chr12:122445744..122449221-chr12:122451078..122453446,3	K562	blood:
3	chr12:122445617..122452949-chr12:122456112..122461928,13	MCF-7	breast:
4	chr12:122065145..122067836-chr12:122450179..122451724,2	K562	blood:
5	chr12:122449991..122452263-chr12:122459578..122462455,2	K562	blood:
6	chr12:122393647..122395648-chr12:122451452..122452969,2	MCF-7	breast:
7	chr12:122450614..122453245-chr12:122454645..122456321,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110987	Chromatin interaction
ENSG00000255856	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10840635	0.81[JPT][hapmap]
rs10840639	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840640	0.97[ASN][1000 genomes]
rs10840641	0.89[ASN][1000 genomes]
rs11043249	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11043252	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs11043253	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs11043254	0.83[ASN][1000 genomes]
rs11043265	0.81[JPT][hapmap]
rs11043276	0.81[JPT][hapmap]
rs11043281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11043287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12230841	0.81[AFR][1000 genomes]
rs12231594	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2177330	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3741582	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3741586	1.00[CEU][hapmap]
rs58504997	0.83[ASN][1000 genomes]
rs59325626	0.83[ASN][1000 genomes]
rs6486783	1.00[CEU][hapmap]
rs6486785	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7139277	0.81[JPT][hapmap]
rs7294458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314989	0.81[JPT][hapmap]
rs7316212	0.84[JPT][hapmap];0.87[LWK][hapmap]
rs7954584	0.81[JPT][hapmap]
rs7969138	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs830127	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	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:14 , 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	chr12:122448800-122452200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:122449000-122451600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:122449000-122456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:122449800-122452400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:122451200-122451600	Enhancers	K562	blood
11	chr12:122451400-122452000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr12:122451400-122453000	Enhancers	Fetal Thymus	thymus
13	chr12:122451400-122453000	Enhancers	Dnd41	blood
14	chr12:122451400-122453200	Enhancers	Thymus	Thymus

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