Variant report

Variant	rs73113948
Chromosome Location	chr1:223219797-223219798
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11488549	1.00[ASN][1000 genomes]
rs1341985	1.00[ASN][1000 genomes]
rs1418143	1.00[ASN][1000 genomes]
rs1418144	1.00[ASN][1000 genomes]
rs17163741	1.00[ASN][1000 genomes]
rs34088950	1.00[ASN][1000 genomes]
rs34970812	1.00[ASN][1000 genomes]
rs35705006	1.00[ASN][1000 genomes]
rs35802580	1.00[ASN][1000 genomes]
rs35953839	1.00[ASN][1000 genomes]
rs4393150	1.00[ASN][1000 genomes]
rs5744104	1.00[ASN][1000 genomes]
rs5744106	1.00[ASN][1000 genomes]
rs5744107	1.00[ASN][1000 genomes]
rs61838985	1.00[ASN][1000 genomes]
rs67833495	1.00[ASN][1000 genomes]
rs72743840	1.00[ASN][1000 genomes]
rs72743847	1.00[ASN][1000 genomes]
rs72743860	1.00[ASN][1000 genomes]
rs72743869	1.00[ASN][1000 genomes]
rs72743871	1.00[ASN][1000 genomes]
rs72743874	1.00[ASN][1000 genomes]
rs73113934	1.00[ASN][1000 genomes]
rs73113935	1.00[ASN][1000 genomes]
rs73113941	1.00[ASN][1000 genomes]
rs988243	1.00[ASN][1000 genomes]
rs988244	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv917330	chr1:223141547-223225893	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223212000-223225600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:223214800-223247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:223217600-223220400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:223218000-223220800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr1:223219200-223220600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:223219200-223220600	Enhancers	Stomach Mucosa	stomach
7	chr1:223219400-223220200	Enhancers	HepG2	liver
8	chr1:223219400-223221400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:223219400-223221600	Enhancers	Liver	Liver
10	chr1:223219400-223225600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:223219600-223220600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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