Variant report

Variant	rs4610551
Chromosome Location	chr6:53654299-53654300
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	chr6:53651995..53655009-chr6:53655283..53658516,4	MCF-7	breast:
2	chr6:53652284..53655069-chr6:53658520..53660437,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137269	Chromatin interaction
ENSG00000228614	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10456672	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10755766	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10948775	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11751003	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11758147	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13216331	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4314499	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4345397	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4373352	0.91[AMR][1000 genomes]
rs4400206	0.89[AMR][1000 genomes]
rs4404762	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4441952	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4457161	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4516937	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4563705	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4712043	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4712044	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4715418	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6903399	0.81[AMR][1000 genomes]
rs6908232	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6921605	0.81[AMR][1000 genomes]
rs6925356	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6934324	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7749273	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7756512	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7763482	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7776124	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9370233	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9382231	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9382232	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9382233	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9382235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382238	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9382241	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9395876	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9395878	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9474639	0.80[AMR][1000 genomes]
rs9474640	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9474641	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9474646	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9474649	0.81[AMR][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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3474747	chr6:53648744-53677210	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3474748	chr6:53648758-53677207	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53637600-53656000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:53639400-53658000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:53652200-53655800	Weak transcription	HepG2	liver
4	chr6:53652600-53657400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:53652800-53656000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:53653000-53655400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:53653200-53656000	Weak transcription	Placenta Amnion	Placenta Amnion

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