Variant report

Variant	rs413884
Chromosome Location	chr12:29928654-29928655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29926045..29928762-chr12:29929311..29931905,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10743675	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310141	1.00[ASN][1000 genomes]
rs184221	0.86[ASN][1000 genomes]
rs302316	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302319	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302320	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34806272	0.83[EUR][1000 genomes]
rs393839	0.86[EUR][1000 genomes]
rs437999	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441394	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57756035	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7957615	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29916000-29931400	Weak transcription	Pancreas	Pancrea
2	chr12:29921600-29934000	Weak transcription	Fetal Kidney	kidney
3	chr12:29922600-29929600	Weak transcription	HSMM	muscle
4	chr12:29922600-29931000	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:29922600-29931800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:29922600-29934000	Weak transcription	NHLF	lung
7	chr12:29922800-29930600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:29922800-29931200	Weak transcription	Aorta	Aorta
9	chr12:29922800-29933800	Weak transcription	Hela-S3	cervix
10	chr12:29924600-29931600	Weak transcription	Adipose Nuclei	Adipose
11	chr12:29925400-29934000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:29925600-29934200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:29926400-29929200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:29926400-29931400	Weak transcription	Ovary	ovary
15	chr12:29926400-29931600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:29926600-29931400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:29926800-29929000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:29927000-29929600	Weak transcription	Left Ventricle	heart
19	chr12:29927000-29930800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:29927000-29931400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:29927200-29931400	Weak transcription	Fetal Heart	heart
22	chr12:29927200-29931800	Weak transcription	Right Atrium	heart
23	chr12:29927200-29931800	Weak transcription	Right Ventricle	heart
24	chr12:29927200-29931800	Weak transcription	Spleen	Spleen
25	chr12:29927400-29929400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr12:29927400-29930000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:29927600-29929400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr12:29927600-29929800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr12:29927600-29929800	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr12:29927800-29929800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:29927800-29931000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:29928200-29929200	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr12:29928200-29930000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:29928200-29930000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr12:29928400-29928800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr12:29928400-29928800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
37	chr12:29928400-29929000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:29928400-29929400	ZNF genes & repeats	HMEC	breast
39	chr12:29928400-29929600	Weak transcription	Psoas Muscle	Psoas
40	chr12:29928600-29929200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:29928600-29929200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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