Variant report

Variant	rs6998348
Chromosome Location	chr8:122636841-122636842
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10089014	0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10094125	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs10097083	0.85[ASN][1000 genomes]
rs11780881	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11781907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784137	0.81[CEU][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.85[ASN][1000 genomes]
rs11992999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1871884	0.81[CEU][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs2385924	0.81[CEU][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs4255143	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437656	0.82[ASN][1000 genomes]
rs4474031	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4618701	0.87[ASW][hapmap];0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871210	0.81[JPT][hapmap];0.88[MEX][hapmap];0.82[ASN][1000 genomes]
rs62524931	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524935	0.85[ASN][1000 genomes]
rs62524936	0.85[ASN][1000 genomes]
rs6651224	0.81[CEU][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs6984484	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009945	0.80[ASN][1000 genomes]
rs7016481	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016956	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817920	0.82[ASN][1000 genomes]
rs7834455	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7834907	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033501	chr8:122436332-122758651	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831446	chr8:122535039-122711959	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6998348	KCNK17	trans	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122615200-122644000	Weak transcription	Fetal Brain Male	brain
2	chr8:122616000-122640200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:122624800-122640800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:122626800-122643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:122627400-122649800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:122629800-122641000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:122631600-122637000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:122631800-122638200	Genic enhancers	Osteobl	bone
9	chr8:122632000-122648800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:122632800-122637800	Weak transcription	Fetal Stomach	stomach
11	chr8:122633000-122637400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:122633000-122638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:122633200-122637800	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:122633200-122638200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:122633400-122638800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:122635200-122637000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:122635600-122637000	Genic enhancers	Muscle Satellite Cultured Cells	--
18	chr8:122635600-122637200	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:122635800-122637000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:122635800-122637200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:122636000-122642600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:122636200-122637000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:122636400-122637000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:122636400-122637000	Enhancers	A549	lung
25	chr8:122636400-122639600	Weak transcription	Fetal Kidney	kidney
26	chr8:122636600-122640200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:122636600-122644000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:122636800-122637000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:122636800-122637000	Enhancers	Fetal Lung	lung
30	chr8:122636800-122637000	Genic enhancers	NHDF-Ad	bronchial
31	chr8:122636800-122638000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:122636800-122638000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:122636800-122638000	Weak transcription	NHLF	lung
34	chr8:122636800-122638200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:122636800-122638200	Weak transcription	HSMMtube	muscle
36	chr8:122636800-122638600	Strong transcription	HSMM	muscle
37	chr8:122636800-122640800	Weak transcription	NH-A	brain
38	chr8:122636800-122647600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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