Variant report

Variant	rs12424095
Chromosome Location	chr12:105650599-105650600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105632034..105634612-chr12:105649228..105651077,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10161513	1.00[ASN][1000 genomes]
rs11112410	1.00[ASN][1000 genomes]
rs11112452	1.00[ASN][1000 genomes]
rs11112522	1.00[ASN][1000 genomes]
rs11112526	1.00[ASN][1000 genomes]
rs11112530	1.00[ASN][1000 genomes]
rs11112531	1.00[ASN][1000 genomes]
rs11112532	1.00[ASN][1000 genomes]
rs12299366	1.00[ASN][1000 genomes]
rs12299391	1.00[ASN][1000 genomes]
rs12301914	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs12304384	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12305766	1.00[ASN][1000 genomes]
rs12311156	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs12312965	0.87[CEU][hapmap]
rs12317637	1.00[ASN][1000 genomes]
rs12317804	1.00[ASN][1000 genomes]
rs12321199	1.00[ASN][1000 genomes]
rs12321518	1.00[ASN][1000 genomes]
rs12424191	1.00[ASN][1000 genomes]
rs12424709	1.00[ASN][1000 genomes]
rs17037098	1.00[ASN][1000 genomes]
rs35149056	0.88[EUR][1000 genomes]
rs3910856	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs58780154	1.00[ASN][1000 genomes]
rs59320697	1.00[ASN][1000 genomes]
rs59593474	1.00[ASN][1000 genomes]
rs60999193	1.00[ASN][1000 genomes]
rs7132816	1.00[ASN][1000 genomes]
rs7133728	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs7136270	1.00[ASN][1000 genomes]
rs7136306	1.00[ASN][1000 genomes]
rs7300130	1.00[ASN][1000 genomes]
rs7302842	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs7305406	1.00[ASN][1000 genomes]
rs7306679	1.00[ASN][1000 genomes]
rs73179970	0.85[EUR][1000 genomes]
rs73179974	0.85[EUR][1000 genomes]
rs73181810	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181818	1.00[ASN][1000 genomes]
rs73181822	1.00[ASN][1000 genomes]
rs73181825	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181843	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181852	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181856	1.00[ASN][1000 genomes]
rs73181857	1.00[ASN][1000 genomes]
rs73181869	1.00[ASN][1000 genomes]
rs7971630	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs7975115	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975787	0.87[CEU][hapmap]
rs7978034	1.00[CEU][hapmap]
rs9971795	1.00[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	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
2	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105646400-105651000	Enhancers	Osteobl	bone
2	chr12:105647000-105652600	Enhancers	HSMMtube	muscle
3	chr12:105647000-105653400	Enhancers	NHLF	lung
4	chr12:105647200-105651000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:105647200-105651800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:105647400-105653400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr12:105648200-105651000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:105648200-105651000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:105648200-105651800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:105648200-105651800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:105648200-105652000	Enhancers	HMEC	breast
12	chr12:105648200-105653000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:105648200-105653800	Enhancers	NHDF-Ad	bronchial
14	chr12:105648200-105657400	Weak transcription	Esophagus	oesophagus
15	chr12:105648800-105651800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:105648800-105651800	Enhancers	NHEK	skin
17	chr12:105648800-105652800	Enhancers	HSMM	muscle
18	chr12:105649000-105650800	Weak transcription	A549	lung
19	chr12:105649000-105651000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:105649600-105651000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:105649800-105651800	Enhancers	Aorta	Aorta
22	chr12:105650000-105651000	Weak transcription	HUVEC	blood vessel
23	chr12:105650000-105651400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:105650000-105651800	Enhancers	Hela-S3	cervix
25	chr12:105650200-105650800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr12:105650200-105651000	Enhancers	NH-A	brain
27	chr12:105650400-105650600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:105650400-105650800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:105650400-105651000	Enhancers	Colon Smooth Muscle	Colon

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