Variant report

Variant	rs72953254
Chromosome Location	chr6:74710618-74710619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs3003193	1.00[ASN][1000 genomes]
rs3012535	1.00[ASN][1000 genomes]
rs4991999	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60825371	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6453718	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6919667	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9443003	0.96[EUR][1000 genomes]
rs9443004	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9447116	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9447117	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9447121	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1030389	chr6:74606701-74811706	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3394316	chr6:74630005-74935625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv603733	chr6:74666559-74944460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv970366	chr6:74706205-74723619	Active TSS Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3474565	chr6:74708132-74712930	Flanking Active TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv3474566	chr6:74708132-74712930	Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
9	esv2422169	chr6:74708875-74717021	Enhancers Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv15346	chr6:74708924-74716855	Enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv823738	chr6:74709167-74716801	Enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv603734	chr6:74709561-74714172	Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
13	nsv603735	chr6:74709561-74715351	Flanking Active TSS Enhancers Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv603736	chr6:74709561-74716478	Enhancers Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv603737	chr6:74709561-74725363	Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv442987	chr6:74709709-74717021	Active TSS Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv514371	chr6:74709952-74716656	Enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv603738	chr6:74710083-74716478	Active TSS Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv603739	chr6:74710299-74716478	Enhancers Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74710400-74711000	Enhancers	NHDF-Ad	bronchial
2	chr6:74710600-74710800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:74710600-74710800	Enhancers	Esophagus	oesophagus
4	chr6:74710600-74711000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:74710600-74711600	Enhancers	Fetal Muscle Leg	muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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