Variant report

Variant	rs4322258
Chromosome Location	chr1:62716161-62716162
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1050334	0.91[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10789108	0.92[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap]
rs10889309	0.89[ASN][1000 genomes]
rs10889313	0.91[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs10889315	0.92[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs11207941	0.91[ASN][1000 genomes]
rs11207942	0.84[ASN][1000 genomes]
rs11207943	0.89[ASN][1000 genomes]
rs11207944	0.92[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs11207945	0.91[CEU][hapmap];0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11207946	0.89[ASN][1000 genomes]
rs11207947	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11207948	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12030846	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12089897	0.89[ASN][1000 genomes]
rs12096118	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12120789	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12138777	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12144282	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2067994	0.92[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2666478	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2774928	0.89[ASN][1000 genomes]
rs41289438	0.91[ASN][1000 genomes]
rs55673263	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56318037	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59025845	0.86[EUR][1000 genomes]
rs61775734	0.91[ASN][1000 genomes]
rs61775736	0.91[ASN][1000 genomes]
rs61775737	0.91[ASN][1000 genomes]
rs6660963	0.82[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs6664672	0.84[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs6680953	0.91[ASN][1000 genomes]
rs6688986	0.92[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.91[ASN][1000 genomes]
rs6696307	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6696486	0.91[ASN][1000 genomes]
rs7553446	0.90[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs927777	0.84[CHB][hapmap];0.92[GIH][hapmap];0.82[MEX][hapmap]
rs958802	0.92[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	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
rs4322258	KANK4	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62704000-62720600	Weak transcription	Right Atrium	heart
2	chr1:62707600-62719600	Weak transcription	Fetal Kidney	kidney
3	chr1:62707600-62732000	Weak transcription	Gastric	stomach
4	chr1:62707800-62727400	Weak transcription	Pancreas	Pancrea
5	chr1:62708200-62720000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:62710800-62731800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:62711400-62718000	Weak transcription	HepG2	liver
8	chr1:62711600-62730600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:62711600-62737200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:62712000-62727400	Weak transcription	Fetal Lung	lung
11	chr1:62712000-62731600	Weak transcription	Placenta	Placenta
12	chr1:62712200-62716400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:62713400-62728800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:62713600-62716200	Weak transcription	Fetal Stomach	stomach
15	chr1:62713800-62716200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:62713800-62718000	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:62714000-62717800	Weak transcription	Fetal Heart	heart
18	chr1:62714200-62716400	Weak transcription	Adipose Nuclei	Adipose
19	chr1:62715400-62717000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:62715800-62716400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:62715800-62716800	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:62715800-62716800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:62716000-62716200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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