Variant report

Variant	rs74085447
Chromosome Location	chr12:46924288-46924289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46765368..46767336-chr12:46923589..46925660,2	K562	blood:
2	chr12:46923109..46925590-chr12:46988951..46990498,2	MCF-7	breast:
3	chr12:46916796..46918875-chr12:46924233..46926266,3	K562	blood:
4	chr12:46923809..46925445-chr12:46927619..46930546,2	K562	blood:
5	chr12:46922925..46925309-chr12:46926287..46929119,2	K562	blood:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11183500	1.00[EUR][1000 genomes]
rs11183510	1.00[EUR][1000 genomes]
rs11183512	1.00[EUR][1000 genomes]
rs11183513	1.00[EUR][1000 genomes]
rs11830086	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11834444	1.00[EUR][1000 genomes]
rs12296783	1.00[EUR][1000 genomes]
rs12317179	1.00[EUR][1000 genomes]
rs12321960	1.00[EUR][1000 genomes]
rs17096996	1.00[EUR][1000 genomes]
rs2408578	1.00[EUR][1000 genomes]
rs34098443	1.00[EUR][1000 genomes]
rs3935048	1.00[EUR][1000 genomes]
rs55649919	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59451063	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60876255	1.00[EUR][1000 genomes]
rs61351787	1.00[EUR][1000 genomes]
rs7136748	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74085404	1.00[EUR][1000 genomes]
rs74085421	1.00[EUR][1000 genomes]
rs74085432	1.00[EUR][1000 genomes]
rs74085442	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74085444	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7975472	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7980023	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46918000-46924800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:46918800-46925000	Weak transcription	NHEK	skin
3	chr12:46919000-46924800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:46919200-46929800	Weak transcription	A549	lung
5	chr12:46919400-46929400	Weak transcription	Right Atrium	heart
6	chr12:46919800-46927600	Weak transcription	Fetal Heart	heart
7	chr12:46920000-46929600	Weak transcription	Left Ventricle	heart
8	chr12:46924000-46925400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:46924000-46926000	ZNF genes & repeats	Fetal Stomach	stomach
10	chr12:46924000-46926400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:46924200-46924400	Enhancers	Pancreas	Pancrea
12	chr12:46924200-46924600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:46924200-46925400	Enhancers	Right Ventricle	heart
14	chr12:46924200-46926000	Enhancers	HepG2	liver

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