Variant report

Variant	rs11829980
Chromosome Location	chr12:4161687-4161688
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10492325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735028	0.92[ASN][1000 genomes]
rs11830453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832512	0.92[ASN][1000 genomes]
rs11833630	0.82[CEU][hapmap];1.00[EUR][1000 genomes]
rs11836187	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17699732	0.89[EUR][1000 genomes]
rs17699749	0.89[EUR][1000 genomes]
rs17836511	0.84[EUR][1000 genomes]
rs2358592	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532534	0.82[CEU][hapmap];1.00[EUR][1000 genomes]
rs2724198	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724209	1.00[EUR][1000 genomes]
rs4766210	0.92[ASN][1000 genomes]
rs57157801	0.81[EUR][1000 genomes]
rs57223688	0.89[ASN][1000 genomes]
rs723152	0.92[ASN][1000 genomes]
rs7315461	0.97[EUR][1000 genomes]
rs759308	0.92[ASN][1000 genomes]
rs7955831	0.92[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832316	chr12:3981184-4180381	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2761723	chr12:4096815-4161871	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468982	chr12:4108513-4164815	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv557120	chr12:4108513-4164815	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4142800-4164200	Weak transcription	Pancreas	Pancrea
2	chr12:4157000-4169000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:4160400-4169200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:4160800-4162800	Enhancers	Fetal Thymus	thymus
5	chr12:4160800-4163000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:4161200-4163000	Bivalent Enhancer	Fetal Heart	heart
7	chr12:4161600-4162000	Weak transcription	Placenta	Placenta
8	chr12:4161600-4162600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:4161600-4162600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:4161600-4162600	Enhancers	HMEC	breast
11	chr12:4161600-4162800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:4161600-4162800	Enhancers	HepG2	liver
13	chr12:4161600-4162800	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links