Variant report

Variant	rs11043286
Chromosome Location	chr12:122448434-122448435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122244343..122246026-chr12:122447313..122449275,2	K562	blood:
2	chr12:122445617..122452949-chr12:122456112..122461928,13	MCF-7	breast:
3	chr12:122445744..122449221-chr12:122451078..122453446,3	K562	blood:
4	chr12:122440790..122443569-chr12:122445704..122448468,2	MCF-7	breast:
5	chr12:122442757..122445214-chr12:122447677..122450605,3	K562	blood:

Variant related genes	Relation type
ENSG00000110987	Chromatin interaction
ENSG00000255856	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10431199	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840642	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11043216	1.00[JPT][hapmap]
rs11043229	0.81[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap]
rs11043237	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs11043242	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11043255	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11043263	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11043277	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11043285	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043290	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043292	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11043295	0.94[ASN][1000 genomes]
rs11829607	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12230823	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1610041	0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs2707058	0.87[CHD][hapmap];1.00[TSI][hapmap]
rs34768683	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3847694	0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs4069668	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56040016	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56122558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56142842	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58326739	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59922210	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137708	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs7138296	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7313252	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs73415674	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73415687	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73415696	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7958406	1.00[JPT][hapmap]
rs7961660	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971538	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7978386	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122442600-122458800	Weak transcription	Aorta	Aorta
2	chr12:122443000-122449000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:122443000-122458800	Weak transcription	Brain Anterior Caudate	brain
4	chr12:122443400-122458800	Weak transcription	Right Ventricle	heart
5	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
6	chr12:122444600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:122444800-122449200	Enhancers	Fetal Thymus	thymus
8	chr12:122445000-122448600	Enhancers	Primary B cells from cord blood	blood
9	chr12:122446000-122451400	Weak transcription	Dnd41	blood
10	chr12:122447400-122448600	Weak transcription	Adipose Nuclei	Adipose
11	chr12:122447400-122449800	Weak transcription	HSMMtube	muscle
12	chr12:122448200-122448600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:122448200-122448800	Strong transcription	Thymus	Thymus
14	chr12:122448400-122448600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:122448400-122448800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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