Variant report

Variant	rs11176942
Chromosome Location	chr12:68305729-68305730
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68304416..68306533-chr12:68307789..68310636,2	MCF-7	breast:
2	chr12:68302716..68305733-chr12:68312803..68316283,4	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10878692	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12424607	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17104520	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104521	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930117	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2930119	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3014995	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs741289	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68302400-68305800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:68302400-68307800	Enhancers	Fetal Muscle Leg	muscle
3	chr12:68302600-68310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:68303000-68305800	Enhancers	NHDF-Ad	bronchial
5	chr12:68304400-68305800	Enhancers	Fetal Brain Male	brain
6	chr12:68304600-68305800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:68304600-68305800	Enhancers	Brain Cingulate Gyrus	brain
8	chr12:68304800-68305800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:68304800-68305800	Enhancers	Fetal Brain Female	brain
10	chr12:68304800-68305800	Enhancers	Fetal Lung	lung
11	chr12:68305000-68305800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr12:68305000-68305800	Weak transcription	Brain Substantia Nigra	brain
13	chr12:68305000-68305800	Enhancers	NHEK	skin
14	chr12:68305000-68306600	Weak transcription	Right Ventricle	heart
15	chr12:68305200-68305800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:68305200-68305800	Enhancers	Colon Smooth Muscle	Colon
17	chr12:68305200-68306000	Enhancers	HSMM	muscle
18	chr12:68305200-68306000	Enhancers	HSMMtube	muscle
19	chr12:68305400-68305800	Flanking Active TSS	Fetal Heart	heart
20	chr12:68305400-68305800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr12:68305400-68305800	Enhancers	NH-A	brain
22	chr12:68305400-68306000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:68305400-68310000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:68305400-68310200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:68305600-68305800	Enhancers	Brain Anterior Caudate	brain
26	chr12:68305600-68305800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:68305600-68305800	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:68305600-68306600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:68305600-68310000	Weak transcription	Psoas Muscle	Psoas
30	chr12:68305600-68312400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:68305600-68312400	Weak transcription	HMEC	breast
32	chr12:68305600-68313000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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