Variant report

Variant	rs28365206
Chromosome Location	chr12:40610389-40610390
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40610100-40613194..12:40793507-40812339	K562	blood:

Variant related genes	Relation type
ENSG00000205592	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10506143	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506144	1.00[CHB][hapmap]
rs10506146	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10506147	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10878244	1.00[JPT][hapmap]
rs11175186	1.00[CHB][hapmap]
rs11175593	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11564107	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs11564108	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11564117	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11564131	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564153	0.82[AMR][1000 genomes]
rs11564185	1.00[JPT][hapmap]
rs11564187	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs11564190	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564209	1.00[JPT][hapmap]
rs11564210	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs11564212	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11564214	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11564216	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11564218	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12422544	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12423419	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12423551	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12424294	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12425561	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12425630	1.00[EUR][1000 genomes]
rs12426643	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12427022	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1373442	1.00[EUR][1000 genomes]
rs1388585	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs1388597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1491945	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17443656	1.00[JPT][hapmap]
rs17458121	1.00[JPT][hapmap]
rs17458230	1.00[JPT][hapmap]
rs17458808	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17461387	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17461575	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17461692	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17465610	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17466016	1.00[JPT][hapmap]
rs17483919	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17484003	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17484141	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17519825	1.00[JPT][hapmap]
rs2131081	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28365169	1.00[CHB][hapmap]
rs28365173	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28370673	1.00[CEU][hapmap]
rs28370682	1.00[JPT][hapmap]
rs34567498	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4767962	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4767964	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767965	0.90[AMR][1000 genomes]
rs4768213	1.00[CHB][hapmap]
rs4768226	1.00[JPT][hapmap]

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	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40604200-40611000	Weak transcription	Fetal Kidney	kidney
2	chr12:40605200-40610400	Weak transcription	A549	lung
3	chr12:40608800-40611400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:40609200-40611200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:40609400-40610800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:40609400-40611000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:40609400-40611000	Enhancers	Hela-S3	cervix
8	chr12:40609400-40611000	Enhancers	HMEC	breast
9	chr12:40609600-40610400	Enhancers	NHEK	skin
10	chr12:40609600-40610600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:40609600-40611000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:40610000-40610400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr12:40610000-40611000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:40610000-40611200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr12:40610200-40611000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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