Variant report

Variant	rs965143
Chromosome Location	chr7:47837117-47837118
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10231581	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10269813	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11760871	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12702385	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12702386	0.87[ASN][1000 genomes]
rs12702388	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12702389	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12702390	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13240669	0.83[ASN][1000 genomes]
rs1551277	0.85[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2348459	1.00[ASW][hapmap];0.95[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];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3926198	0.81[ASN][1000 genomes]
rs4724644	0.85[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5022192	0.81[ASN][1000 genomes]
rs6463447	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6463448	1.00[CHB][hapmap];0.84[CHD][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs6943728	1.00[CHB][hapmap];0.85[CHD][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs6962348	0.91[ASN][1000 genomes]
rs6963565	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6969522	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7801465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs965144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9719534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9770658	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs965143	IKZF1	cis	cerebellum	SCAN
rs965143	HUS1	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47817200-47846600	Weak transcription	Left Ventricle	heart
2	chr7:47823400-47847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:47823400-47849400	Weak transcription	Psoas Muscle	Psoas
4	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
5	chr7:47826600-47844000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:47827000-47851400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:47827600-47842000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:47827600-47844400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:47827600-47845800	Weak transcription	Fetal Stomach	stomach
10	chr7:47828400-47839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:47832200-47838800	Weak transcription	HepG2	liver
12	chr7:47834400-47837200	Weak transcription	Spleen	Spleen
13	chr7:47834400-47847000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:47835400-47845800	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:47836200-47837400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:47836200-47839200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:47836200-47843400	Weak transcription	A549	lung
18	chr7:47836200-47844400	Weak transcription	NH-A	brain
19	chr7:47836200-47844600	Weak transcription	Ovary	ovary
20	chr7:47836400-47844400	Weak transcription	NHLF	lung
21	chr7:47837000-47839000	Weak transcription	HSMM	muscle

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