Variant report

Variant	rs712677
Chromosome Location	chr5:111738323-111738324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10052915	0.80[YRI][hapmap]
rs11956740	0.82[YRI][hapmap]
rs712679	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712680	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712681	0.89[MKK][hapmap];1.00[AMR][1000 genomes]
rs821753	1.00[YRI][hapmap]

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	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs712677	KLRC1	trans	lymphoblastoid	seeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111709200-111745400	Weak transcription	Esophagus	oesophagus
2	chr5:111720400-111742800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:111725800-111742400	Weak transcription	Fetal Kidney	kidney
4	chr5:111726200-111742400	Weak transcription	Lung	lung
5	chr5:111726400-111738800	Weak transcription	Left Ventricle	heart
6	chr5:111726400-111742400	Weak transcription	Pancreas	Pancrea
7	chr5:111728800-111753600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:111730400-111753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:111730800-111742800	Weak transcription	Hela-S3	cervix
10	chr5:111732000-111753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:111732400-111742400	Weak transcription	Spleen	Spleen
12	chr5:111732600-111747600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:111732600-111749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:111732800-111742600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:111734200-111753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:111735600-111742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:111736000-111747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:111736000-111752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:111736600-111738400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:111737600-111738400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:111737800-111738800	Weak transcription	Psoas Muscle	Psoas
22	chr5:111738000-111738400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:111738000-111738400	Enhancers	Fetal Heart	heart
24	chr5:111738000-111738600	Enhancers	Adipose Nuclei	Adipose
25	chr5:111738000-111742200	Weak transcription	Right Atrium	heart
26	chr5:111738200-111738400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:111738200-111738400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:111738200-111742400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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