Variant report

Variant	rs966791
Chromosome Location	chr5:114434126-114434127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114428977..114431305-chr5:114432442..114435129,2	K562	blood:
2	chr5:114433522..114434464-chr5:114581758..114582748,6	MCF-7	breast:
3	chr5:114428977..114432180-chr5:114432442..114435284,4	K562	blood:
4	chr5:114404877..114405516-chr5:114433463..114434454,2	MCF-7	breast:
5	chr5:114433699..114434420-chr5:114582242..114582773,2	MCF-7	breast:
6	chr5:114432281..114434501-chr5:114505854..114507519,2	MCF-7	breast:
7	chr5:114433508..114434506-chr5:114581454..114582216,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10039629	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap]
rs10055823	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10061081	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10061288	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10077885	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10078015	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10477526	0.96[CEU][hapmap];0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs11241305	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13360458	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap]
rs1446074	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1838747	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2121188	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2921618	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2921625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921626	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2921629	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2974505	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2974506	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2974507	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2974516	0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]
rs2974609	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2974610	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2974612	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4073838	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4073839	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4075509	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4075510	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4076057	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4131436	0.83[ASN][1000 genomes]
rs4131437	0.96[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap];0.83[ASN][1000 genomes]
rs4235764	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4235765	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4235768	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4235769	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4235770	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4286654	0.83[ASN][1000 genomes]
rs4312873	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4360034	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4382158	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4392610	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4421095	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4435857	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4485921	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4485922	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4489055	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4554207	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705720	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6869551	0.81[ASN][1000 genomes]
rs6878888	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7722841	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[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	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv830453	chr5:114277261-114546536	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs966791	TSSK1B	cis	cerebellum	SCAN
rs966791	UTP6	trans	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114432400-114444600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:114433000-114436000	Weak transcription	HepG2	liver
3	chr5:114433200-114436400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:114433400-114436200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:114433400-114436400	Weak transcription	NHEK	skin
6	chr5:114433600-114436400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:114434000-114434200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:114434000-114434200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:114434000-114434200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:114434000-114434200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:114434000-114434400	Enhancers	Brain Substantia Nigra	brain
12	chr5:114434000-114434400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:114434000-114434600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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