Variant report

Variant	rs10842688
Chromosome Location	chr12:26338294-26338295
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10505993	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10771264	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10771265	0.86[CHB][hapmap];0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs1077585	0.85[ASN][1000 genomes]
rs10842683	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10842685	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10842686	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10842689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10842691	0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs10842692	0.82[CHB][hapmap]
rs11048425	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1124417	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1552043	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16930270	0.85[ASN][1000 genomes]
rs1842323	0.91[EUR][1000 genomes]
rs2343866	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2343867	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2343869	0.91[CHB][hapmap];0.82[CHD][hapmap]
rs6487536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7133280	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7136036	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7300697	0.95[EUR][1000 genomes]
rs7300970	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7953744	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10842688	KRAS	cis	lymphoblastoid	seeQTL
rs10842688	ZC3H10	trans	brain	seeQTL
rs10842688	ITFG3	trans	brain	seeQTL
rs10842688	REEP4	trans	brain	seeQTL
rs10842688	PARP2	trans	brain	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26336200-26338600	Weak transcription	Psoas Muscle	Psoas
2	chr12:26337200-26338400	Weak transcription	Placenta	Placenta
3	chr12:26337400-26338600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:26337800-26341800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:26338000-26338400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:26338000-26341800	Enhancers	HMEC	breast
7	chr12:26338200-26338400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr12:26338200-26338800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:26338200-26338800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:26338200-26339000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:26338200-26341800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:26338200-26341800	Enhancers	NHEK	skin

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