Variant report

Variant	rs4758644
Chromosome Location	chr12:122943915-122943916
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	chr12:122905686..122908132-chr12:122942304..122944180,2	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10161534	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10734915	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10734918	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10744192	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10744208	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10744209	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10744210	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10744211	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10744217	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10744220	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10773103	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10773104	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10773167	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10773172	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10773176	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10773178	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10773208	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10846699	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10846746	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10846764	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10846792	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10846830	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10846920	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10846921	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10846931	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846978	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10998	0.80[ASN][1000 genomes]
rs11057786	0.86[EUR][1000 genomes]
rs11057797	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11057882	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11058034	0.90[EUR][1000 genomes]
rs11058209	0.84[EUR][1000 genomes]
rs11058226	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11058233	0.84[EUR][1000 genomes]
rs11058251	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11058282	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11058402	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11616082	0.88[EUR][1000 genomes]
rs11836188	0.85[EUR][1000 genomes]
rs12423420	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12425970	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12581249	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1473553	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1803290	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1818050	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1973463	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2341439	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28730465	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34129612	0.89[EUR][1000 genomes]
rs4758643	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4758645	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4758646	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4758648	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4758662	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4758666	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55834409	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6488939	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6488951	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6488958	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6489002	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135419	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7301515	0.93[EUR][1000 genomes]
rs7314638	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7316114	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7398014	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7952868	0.84[EUR][1000 genomes]
rs7963773	0.80[EUR][1000 genomes]
rs7964138	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7969429	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7974262	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788145	0.88[EUR][1000 genomes]
rs9988963	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122938800-122957000	Weak transcription	Thymus	Thymus
3	chr12:122939000-122947400	Weak transcription	Placenta	Placenta
4	chr12:122939200-122948000	Weak transcription	Hela-S3	cervix
5	chr12:122939600-122955200	Weak transcription	Fetal Thymus	thymus
6	chr12:122941200-122947400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:122941200-122957200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:122942200-122948000	Weak transcription	Fetal Intestine Large	intestine
9	chr12:122942800-122944400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:122943000-122944800	Weak transcription	GM12878-XiMat	blood
11	chr12:122943200-122948400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:122943400-122944200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:122943400-122944200	Enhancers	HepG2	liver
14	chr12:122943600-122951400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:122943800-122944200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:122943800-122944200	Enhancers	A549	lung
17	chr12:122943800-122944400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:122943800-122944400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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