Variant report

Variant	rs57157801
Chromosome Location	chr12:4119573-4119574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10492325	0.81[EUR][1000 genomes]
rs11829980	0.81[EUR][1000 genomes]
rs11830453	0.81[EUR][1000 genomes]
rs11833630	0.81[EUR][1000 genomes]
rs17699732	0.91[EUR][1000 genomes]
rs17699749	0.91[EUR][1000 genomes]
rs17836511	0.97[EUR][1000 genomes]
rs2532534	0.81[EUR][1000 genomes]
rs2724198	0.83[EUR][1000 genomes]
rs2724209	0.81[EUR][1000 genomes]
rs4238010	0.85[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4107600-4121600	Weak transcription	Esophagus	oesophagus
2	chr12:4109400-4121000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:4112400-4120800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:4116000-4122800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:4116400-4120800	Weak transcription	Placenta	Placenta
6	chr12:4116800-4120400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:4116800-4120600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:4116800-4120600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:4116800-4120600	Weak transcription	NHEK	skin
10	chr12:4116800-4121000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:4117400-4120600	Enhancers	HepG2	liver
12	chr12:4117600-4119600	Weak transcription	HMEC	breast
13	chr12:4118800-4120000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:4118800-4120000	Enhancers	Pancreas	Pancrea
15	chr12:4118800-4127200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:4119200-4119600	Enhancers	Liver	Liver
17	chr12:4119200-4119800	Enhancers	Fetal Intestine Large	intestine
18	chr12:4119200-4119800	Enhancers	Fetal Kidney	kidney

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dbSNP/dbVar ID: rs12345 /nsv7879
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