Variant report

Variant	rs73054516
Chromosome Location	chr7:15238870-15238871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12699694	0.89[ASN][1000 genomes]
rs58529549	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66601233	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73054518	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054538	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73054540	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73054543	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73054544	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73056478	0.85[EUR][1000 genomes]
rs73060448	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758104	chr7:14896877-15299786	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2759512	chr7:14896877-15299786	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1032569	chr7:14905287-15597069	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1021172	chr7:14944318-15548794	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv538743	chr7:14944318-15548794	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv522976	chr7:15108184-15318473	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv606292	chr7:15121951-15262599	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1029203	chr7:15138771-15267341	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv538744	chr7:15138771-15267341	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1017877	chr7:15171708-15395476	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1017559	chr7:15173335-15374132	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538745	chr7:15173335-15374132	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1024435	chr7:15174484-15309359	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1026826	chr7:15234496-15275317	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv887724	chr7:15236392-15308585	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15237200-15239000	Enhancers	NHDF-Ad	bronchial
2	chr7:15237200-15241000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:15237400-15239200	Enhancers	Osteobl	bone
4	chr7:15237800-15239400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:15238000-15239000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:15238000-15239000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:15238000-15239000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:15238400-15239000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:15238400-15239000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:15238400-15239000	Enhancers	NHEK	skin
11	chr7:15238400-15239200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:15238400-15239400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr7:15238600-15239400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:15238800-15249200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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