Variant report

Variant	rs7663269
Chromosome Location	chr4:75192850-75192851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75192786..75195576-chr4:75240334..75242838,2	K562	blood:
2	chr4:75192691..75195126-chr4:75328844..75330528,2	K562	blood:
3	chr4:75192372..75204703-chr4:75227413..75239566,26	K562	blood:

Variant related genes	Relation type
ENSG00000124882	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10009707	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10010575	0.96[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs10017409	0.88[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10018373	0.84[TSI][hapmap]
rs10023519	0.92[TSI][hapmap]
rs10028285	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1037824	0.85[EUR][1000 genomes]
rs11724468	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11737662	0.84[TSI][hapmap]
rs11942725	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs1246575	0.84[TSI][hapmap]
rs1246578	0.84[TSI][hapmap]
rs1246591	0.84[TSI][hapmap]
rs1265327	0.84[TSI][hapmap]
rs1460016	0.85[GIH][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap]
rs16850862	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16850883	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs16850941	0.87[EUR][1000 genomes]
rs17829765	0.83[CEU][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs2045616	0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs2045617	0.85[EUR][1000 genomes]
rs2061508	0.87[ASW][hapmap];0.88[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2367555	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2367745	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28539097	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28644493	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs488440	0.84[TSI][hapmap]
rs58813617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6446983	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6446984	0.87[ASW][hapmap];0.83[CEU][hapmap];0.88[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6446985	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6814880	0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs6819605	0.94[ASW][hapmap];0.83[CEU][hapmap];0.88[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6820992	0.85[EUR][1000 genomes]
rs6821664	0.92[TSI][hapmap]
rs6835734	0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs6854723	0.89[TSI][hapmap]
rs715844	0.93[EUR][1000 genomes]
rs7659389	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7665105	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7672588	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7680463	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs7681912	0.88[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs9997322	0.89[TSI][hapmap]

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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7663269	CNOT6L	cis	parietal	SCAN
rs7663269	RCHY1	cis	parietal	SCAN
rs7663269	ANKRD56	cis	parietal	SCAN
rs7663269	CXCL3	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75192400-75193200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:75192600-75193200	Flanking Active TSS	K562	blood
3	chr4:75192600-75193400	Genic enhancers	NHEK	skin
4	chr4:75192800-75193200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr4:75192800-75193200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:75192800-75193200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:75192800-75193400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:75192800-75193400	Enhancers	HUVEC	blood vessel
9	chr4:75192800-75194200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:75192800-75194600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:75192800-75194800	Enhancers	Brain Germinal Matrix	brain
12	chr4:75192800-75194800	Enhancers	HMEC	breast

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