Variant report

Variant	rs4756970
Chromosome Location	chr11:18843054-18843055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10833006	0.81[ASN][1000 genomes]
rs10833007	0.81[ASN][1000 genomes]
rs11024834	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11024835	0.84[ASN][1000 genomes]
rs11512067	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825693	0.90[ASN][1000 genomes]
rs1384642	0.92[CHB][hapmap]
rs1483095	0.86[MEX][hapmap]
rs4237737	0.83[ASN][1000 genomes]
rs4325289	0.80[CHB][hapmap];0.90[CHD][hapmap]
rs4756973	0.84[ASN][1000 genomes]
rs55899426	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56062517	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56382615	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60013221	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60532851	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6483531	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102774	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102779	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103161	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111492	0.82[ASN][1000 genomes]
rs7116498	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129128	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs72893636	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927784	0.96[ASN][1000 genomes]
rs7930561	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939084	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2758257	chr11:18818729-19082068	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759806	chr11:18818729-19082068	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428250	chr11:18818729-19082068	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4756970	KLRB1	trans	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18840200-18843200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:18841000-18843600	Enhancers	Fetal Intestine Small	intestine
3	chr11:18841600-18843400	Enhancers	Fetal Intestine Large	intestine
4	chr11:18842200-18843200	Active TSS	Duodenum Mucosa	Duodenum
5	chr11:18842200-18843400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:18842400-18843400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:18842600-18843200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:18842600-18843200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:18842600-18843200	Active TSS	Osteobl	bone
10	chr11:18842600-18843400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:18842600-18843400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:18842600-18843400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:18842800-18843200	Active TSS	NHDF-Ad	bronchial
14	chr11:18842800-18843400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:18842800-18843400	Active TSS	Hela-S3	cervix
16	chr11:18843000-18843200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:18843000-18843200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:18843000-18843200	Enhancers	GM12878-XiMat	blood
19	chr11:18843000-18843400	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:18843000-18843400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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