Variant report

Variant	rs10847623
Chromosome Location	chr12:122668965-122668966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr12:122668953-122669360	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:122668818-122669552	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122458978..122460744-chr12:122667663..122669885,2	MCF-7	breast:

Variant related genes	Relation type
LRRC43	TF binding region
ENSG00000110987	Chromatin interaction

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

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

rs_ID	r²[population]
rs10744239	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10773171	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10846939	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10846976	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10846977	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11058323	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12371561	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12424694	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12427088	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2175531	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2292443	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35242277	0.83[AMR][1000 genomes]
rs35822906	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4447210	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4758679	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4758680	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4758681	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4758682	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4758683	0.83[EUR][1000 genomes]
rs61955561	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6488994	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6489188	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7303129	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7311842	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7311871	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7964127	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7979259	0.81[AMR][1000 genomes];0.82[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122667400-122669200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:122667800-122670400	Enhancers	Spleen	Spleen
3	chr12:122668000-122669400	Enhancers	GM12878-XiMat	blood
4	chr12:122668200-122669000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:122668200-122669200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr12:122668200-122669200	Enhancers	Duodenum Mucosa	Duodenum
7	chr12:122668200-122669400	Enhancers	Primary B cells from cord blood	blood
8	chr12:122668200-122669400	Weak transcription	Liver	Liver
9	chr12:122668200-122669600	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:122668200-122670400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:122668400-122669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:122668400-122669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:122668400-122669000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:122668400-122670000	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:122668400-122670400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:122668400-122671800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:122668400-122671800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:122668400-122676400	Weak transcription	Brain Anterior Caudate	brain
19	chr12:122668400-122678400	Weak transcription	Fetal Intestine Small	intestine
20	chr12:122668400-122681600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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