Variant report

Variant	rs72494494
Chromosome Location	chr7:107119394-107119395
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10085577	1.00[ASN][1000 genomes]
rs10215540	0.91[ASN][1000 genomes]
rs10229063	0.97[ASN][1000 genomes]
rs10250249	0.82[ASN][1000 genomes]
rs10254184	0.97[ASN][1000 genomes]
rs28480617	0.82[ASN][1000 genomes]
rs3801951	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57726748	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60305182	1.00[AMR][1000 genomes]
rs60409988	1.00[AMR][1000 genomes]
rs6954309	1.00[ASN][1000 genomes]
rs73187346	0.82[ASN][1000 genomes]
rs73187350	0.82[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	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr7:107035800-107133000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:107052600-107126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:107067600-107119800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:107088600-107126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:107090800-107146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:107091000-107145800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:107098800-107132600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:107104200-107121000	Weak transcription	K562	blood
9	chr7:107112200-107120800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:107112800-107145800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:107113000-107124800	Weak transcription	HUVEC	blood vessel
12	chr7:107113400-107126200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:107115400-107132800	Weak transcription	Primary T cells from cord blood	blood
14	chr7:107115600-107135200	Weak transcription	Left Ventricle	heart
15	chr7:107118200-107119600	Enhancers	Fetal Heart	heart
16	chr7:107118800-107120800	Weak transcription	Right Atrium	heart
17	chr7:107119000-107120000	Active TSS	Right Ventricle	heart

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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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