Variant report

Variant	rs7720407
Chromosome Location	chr5:178254174-178254175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178248233..178250497-chr5:178253238..178254765,2	K562	blood:
2	chr5:178156362..178158364-chr5:178252776..178254974,2	K562	blood:

Variant related genes	Relation type
ENSG00000169131	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10035451	0.82[ASN][1000 genomes]
rs10061541	0.94[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs10078463	0.91[ASN][1000 genomes]
rs12656659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs12658070	0.86[ASN][1000 genomes]
rs28605895	0.86[ASN][1000 genomes]
rs35086073	0.91[ASN][1000 genomes]
rs35580826	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58572858	0.86[ASN][1000 genomes]
rs61484383	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62393033	0.88[ASN][1000 genomes]
rs6600960	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs6600967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861545	0.90[ASN][1000 genomes]
rs6865763	0.82[ASN][1000 genomes]
rs6867346	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6875423	0.85[ASN][1000 genomes]
rs6877165	0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs6881428	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6884383	0.86[ASN][1000 genomes]
rs73324156	0.82[ASN][1000 genomes]
rs73324174	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73330587	0.83[AFR][1000 genomes]
rs73341553	0.81[AFR][1000 genomes]
rs7444422	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs7715130	0.88[ASN][1000 genomes]
rs7715917	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs7722026	1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs7725396	1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7729567	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031206	chr5:178149292-178283614	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv537973	chr5:178149292-178283614	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv968861	chr5:178251700-178275142	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv600453	chr5:178252366-178259787	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178236800-178255800	Weak transcription	K562	blood
2	chr5:178252400-178254600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:178252400-178255000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:178252600-178254200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:178252600-178254400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:178252600-178254400	Enhancers	HMEC	breast
7	chr5:178252600-178254600	Enhancers	NHEK	skin
8	chr5:178252600-178255000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:178252800-178254400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:178253200-178255800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:178253200-178256000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:178253200-178257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:178253200-178257800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:178253800-178255000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:178254000-178254200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:178254000-178255800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:178254000-178259400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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