Variant report

Variant	rs11065334
Chromosome Location	chr12:121363318-121363319
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121362910..121365338-chr12:121366492..121368266,2	K562	blood:
2	chr12:121358068..121359708-chr12:121361498..121363988,2	MCF-7	breast:
3	chr12:121341649..121345411-chr12:121362011..121364307,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10849797	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065226	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065227	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065228	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065253	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065258	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	1.00[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065263	0.83[AMR][1000 genomes]
rs11065267	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.86[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065281	1.00[AMR][1000 genomes]
rs11065285	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065309	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065315	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065318	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065326	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065328	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065347	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065353	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151854	0.82[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151855	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151860	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151865	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1186042	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366451	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[ASN][1000 genomes]
rs12370534	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1696358	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1696362	0.89[CEU][hapmap];1.00[EUR][1000 genomes]
rs1718207	1.00[ASN][1000 genomes]
rs1732397	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1732399	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454728	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701179	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497457	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs498255	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs513940	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515784	1.00[ASN][1000 genomes]
rs519785	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs530162	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs554197	1.00[ASN][1000 genomes]
rs572009	1.00[ASN][1000 genomes]
rs574993	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs581197	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581515	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs582678	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs590556	1.00[ASN][1000 genomes]
rs591489	1.00[ASN][1000 genomes]
rs61624288	1.00[ASN][1000 genomes]
rs627211	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs639343	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs645661	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645786	1.00[ASN][1000 genomes]
rs647336	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648262	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651156	1.00[ASN][1000 genomes]
rs660878	1.00[ASN][1000 genomes]
rs671815	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs708784	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs708788	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs73411916	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413874	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960932	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv560448	chr12:121341477-121364324	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv560453	chr12:121342186-121364324	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121360800-121363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:121362600-121363400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:121362800-121363400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:121362800-121363800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:121362800-121363800	Enhancers	HMEC	breast
6	chr12:121362800-121364400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:121362800-121364400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:121362800-121364400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:121362800-121364400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:121362800-121364400	Enhancers	Placenta	Placenta
11	chr12:121362800-121364600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:121362800-121364600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:121363000-121363600	Enhancers	Fetal Thymus	thymus
14	chr12:121363000-121363600	Enhancers	NHEK	skin
15	chr12:121363000-121364400	Enhancers	Esophagus	oesophagus
16	chr12:121363000-121364400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr12:121363200-121364400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:121363200-121364400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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