Variant report

Variant	rs12565230
Chromosome Location	chr1:45785340-45785341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11211125	1.00[EUR][1000 genomes]
rs11211127	1.00[EUR][1000 genomes]
rs12065695	1.00[EUR][1000 genomes]
rs12066809	1.00[EUR][1000 genomes]
rs12067882	1.00[EUR][1000 genomes]
rs12070890	1.00[EUR][1000 genomes]
rs12073047	1.00[EUR][1000 genomes]
rs12083690	1.00[EUR][1000 genomes]
rs12091335	1.00[EUR][1000 genomes]
rs12093444	1.00[EUR][1000 genomes]
rs16832540	1.00[EUR][1000 genomes]
rs16832545	1.00[EUR][1000 genomes]
rs16832550	1.00[EUR][1000 genomes]
rs16832557	1.00[EUR][1000 genomes]
rs16832559	1.00[EUR][1000 genomes]
rs1855621	1.00[EUR][1000 genomes]
rs28532613	1.00[EUR][1000 genomes]
rs2934860	1.00[EUR][1000 genomes]
rs2934861	1.00[EUR][1000 genomes]
rs2934863	1.00[EUR][1000 genomes]
rs2934864	1.00[EUR][1000 genomes]
rs2991967	1.00[EUR][1000 genomes]
rs2991969	1.00[EUR][1000 genomes]
rs2991984	1.00[EUR][1000 genomes]
rs2993256	1.00[EUR][1000 genomes]
rs2993260	1.00[EUR][1000 genomes]
rs2993261	1.00[EUR][1000 genomes]
rs3014222	1.00[EUR][1000 genomes]
rs3014223	1.00[EUR][1000 genomes]
rs3014224	1.00[EUR][1000 genomes]
rs3014226	1.00[EUR][1000 genomes]
rs35067820	1.00[EUR][1000 genomes]
rs35103566	1.00[EUR][1000 genomes]
rs36053912	1.00[EUR][1000 genomes]
rs57910611	1.00[EUR][1000 genomes]
rs59050426	1.00[EUR][1000 genomes]
rs60347972	1.00[EUR][1000 genomes]
rs61437216	0.93[ASN][1000 genomes]
rs6664588	1.00[EUR][1000 genomes]
rs6671347	1.00[EUR][1000 genomes]
rs6677135	1.00[EUR][1000 genomes]
rs6699702	1.00[EUR][1000 genomes]
rs72896187	1.00[EUR][1000 genomes]
rs72898313	1.00[EUR][1000 genomes]
rs72898315	1.00[EUR][1000 genomes]
rs72898320	1.00[EUR][1000 genomes]
rs72898323	1.00[EUR][1000 genomes]
rs72900311	1.00[EUR][1000 genomes]
rs7412911	1.00[EUR][1000 genomes]
rs7536559	1.00[EUR][1000 genomes]
rs7550744	1.00[EUR][1000 genomes]
rs9429080	1.00[EUR][1000 genomes]
rs9429083	1.00[EUR][1000 genomes]
rs9429164	1.00[EUR][1000 genomes]
rs9429165	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45782600-45785600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:45783000-45785400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:45783200-45785600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:45783200-45788600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:45783400-45785400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:45783400-45787200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
7	chr1:45783600-45785600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:45783600-45786000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:45784200-45785600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:45784800-45785800	Weak transcription	HepG2	liver
11	chr1:45784800-45786000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:45785000-45786400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:45785200-45785600	Enhancers	Spleen	Spleen

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