Variant report

Variant	rs73053448
Chromosome Location	chr7:12714935-12714936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10279548	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279649	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280332	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35407540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757443	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66871471	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67302850	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6944823	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053437	0.81[ASN][1000 genomes]
rs73053442	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053455	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053467	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053491	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053493	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053495	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053498	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053502	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
8	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12712800-12715000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:12713200-12715000	Enhancers	NHEK	skin
3	chr7:12713600-12715200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr7:12714400-12715000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr7:12714400-12715600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:12714600-12715000	Enhancers	Primary B cells from peripheral blood	blood
7	chr7:12714600-12715000	Flanking Active TSS	Liver	Liver
8	chr7:12714600-12715000	Enhancers	Esophagus	oesophagus
9	chr7:12714600-12715000	Enhancers	Gastric	stomach
10	chr7:12714600-12715000	Enhancers	Thymus	Thymus
11	chr7:12714600-12715200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr7:12714600-12715200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr7:12714600-12715400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:12714800-12715000	Enhancers	Placenta	Placenta
15	chr7:12714800-12715200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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

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