Variant report

Variant	rs7571905
Chromosome Location	chr2:48459873-48459874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10495950	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11674475	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11676381	0.94[EUR][1000 genomes]
rs11676925	0.81[EUR][1000 genomes]
rs11679956	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11680162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11680404	0.81[EUR][1000 genomes]
rs11680657	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11681876	0.98[EUR][1000 genomes]
rs11683689	0.98[EUR][1000 genomes]
rs11687670	0.98[EUR][1000 genomes]
rs11687989	0.82[EUR][1000 genomes]
rs11689736	0.94[EUR][1000 genomes]
rs11689818	0.82[EUR][1000 genomes]
rs11691493	0.94[EUR][1000 genomes]
rs11693267	0.94[EUR][1000 genomes]
rs11695923	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11889493	0.92[EUR][1000 genomes]
rs11899593	0.85[AFR][1000 genomes]
rs13431982	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17037218	0.81[AFR][1000 genomes]
rs17324965	0.93[EUR][1000 genomes]
rs17325048	0.98[EUR][1000 genomes]
rs17325209	0.89[EUR][1000 genomes]
rs17396793	0.91[EUR][1000 genomes]
rs17397094	0.90[EUR][1000 genomes]
rs2014675	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2840147	0.85[EUR][1000 genomes]
rs34135365	0.94[EUR][1000 genomes]
rs4530419	0.92[EUR][1000 genomes]
rs55802119	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56037709	0.80[EUR][1000 genomes]
rs58032869	0.85[EUR][1000 genomes]
rs58136909	0.84[EUR][1000 genomes]
rs59161218	0.92[AFR][1000 genomes]
rs6712598	0.86[AFR][1000 genomes]
rs6713017	0.86[AFR][1000 genomes]
rs6730166	0.93[EUR][1000 genomes]
rs6733558	0.93[EUR][1000 genomes]
rs6747738	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6759056	0.92[EUR][1000 genomes]
rs72885791	0.89[AFR][1000 genomes]
rs72885797	0.90[AFR][1000 genomes]
rs7561696	0.82[EUR][1000 genomes]
rs7569346	0.86[AFR][1000 genomes]
rs7581510	0.93[EUR][1000 genomes]
rs7583719	0.92[EUR][1000 genomes]
rs952468	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1001850	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv535681	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:48449400-48463400	Weak transcription	HUVEC	blood vessel
2	chr2:48455600-48463200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:48459200-48460000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:48459400-48460600	Enhancers	HMEC	breast
5	chr2:48459600-48464800	Enhancers	HepG2	liver
6	chr2:48459800-48460600	Enhancers	NHEK	skin

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