Variant report

Variant	rs7688947
Chromosome Location	chr4:122298215-122298216
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122290131..122292541-chr4:122296588..122298243,2	K562	blood:

Variant related genes	Relation type
ENSG00000213480	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11098617	0.84[ASN][1000 genomes]
rs11729700	0.94[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11732033	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13119176	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13120526	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13120639	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13139657	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13140392	0.94[CEU][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13146881	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1398908	0.83[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs17371707	0.83[CEU][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap]
rs17371804	0.83[CEU][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap]
rs17437630	0.83[CEU][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap]
rs17438865	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17438900	0.83[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34480116	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34662155	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34821968	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35097879	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35292409	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35469175	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35623795	0.83[CEU][hapmap];0.89[GIH][hapmap]
rs35738071	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35870436	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35964783	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6842600	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691661	1.00[ASN][1000 genomes]
rs691712	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs71602333	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71602335	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7678003	0.83[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs964305	0.83[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv508308	chr4:122278897-122312719	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1012376	chr4:122282456-122299460	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122294800-122298800	Enhancers	NHEK	skin
2	chr4:122295200-122299000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:122295600-122299400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:122296400-122301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:122296600-122299200	Enhancers	HMEC	breast
6	chr4:122296600-122300800	Weak transcription	Right Ventricle	heart

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