Variant report

Variant	rs12453953
Chromosome Location	chr17:44971081-44971082
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:44968667..44971124-chr17:44973048..44974691,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11570574	1.00[AMR][1000 genomes]
rs12450286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12451290	1.00[YRI][hapmap]
rs12452813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12452830	1.00[EUR][1000 genomes]
rs12453371	1.00[EUR][1000 genomes]
rs12453477	1.00[EUR][1000 genomes]
rs16941159	1.00[EUR][1000 genomes]
rs34577788	1.00[EUR][1000 genomes]
rs55807756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55892126	1.00[AMR][1000 genomes]
rs55904085	1.00[EUR][1000 genomes]
rs60653820	1.00[AMR][1000 genomes]
rs7210725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7215497	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7218079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7224871	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985115	1.00[AMR][1000 genomes]
rs73985116	1.00[AMR][1000 genomes]
rs73985119	1.00[AMR][1000 genomes]
rs73988218	1.00[AMR][1000 genomes]
rs8073803	1.00[AMR][1000 genomes]
rs8080037	1.00[AMR][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	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44961600-44971600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:44968200-44971400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:44968200-44971800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:44969000-44971800	Weak transcription	Spleen	Spleen
5	chr17:44969200-44972400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:44970800-44973200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr17:44971000-44971400	Bivalent Enhancer	HepG2	liver

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