Variant report

Variant	rs2724198
Chromosome Location	chr12:4153621-4153622
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	chr12:4152840..4154943-chr12:4156891..4158726,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10492325	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735028	0.92[ASN][1000 genomes]
rs11829980	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830453	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832512	0.92[ASN][1000 genomes]
rs11833630	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11836187	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17699732	0.92[EUR][1000 genomes]
rs17699749	0.92[EUR][1000 genomes]
rs17836511	0.86[EUR][1000 genomes]
rs2358592	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532534	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2724209	0.97[EUR][1000 genomes]
rs4766210	0.92[ASN][1000 genomes]
rs57157801	0.83[EUR][1000 genomes]
rs57223688	0.89[ASN][1000 genomes]
rs723152	0.92[ASN][1000 genomes]
rs7315461	0.94[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4141200-4158200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:4142800-4164200	Weak transcription	Pancreas	Pancrea
3	chr12:4144000-4155600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:4151000-4153800	Weak transcription	Placenta	Placenta
5	chr12:4151000-4154000	Weak transcription	Fetal Brain Female	brain
6	chr12:4151000-4155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:4151200-4154000	Weak transcription	Fetal Stomach	stomach
8	chr12:4151200-4155000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:4151200-4155200	Weak transcription	Fetal Intestine Large	intestine
10	chr12:4151200-4155200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:4151200-4155400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:4151200-4155400	Weak transcription	Fetal Intestine Small	intestine
13	chr12:4151400-4155400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:4151400-4155400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:4153000-4154200	Enhancers	Brain Germinal Matrix	brain
16	chr12:4153200-4157000	Enhancers	Fetal Brain Male	brain
17	chr12:4153200-4161600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:4153600-4154200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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