Variant report

Variant	rs12083931
Chromosome Location	chr1:45464745-45464746
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction
ENSG00000117425	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10890315	1.00[AMR][1000 genomes]
rs11211054	1.00[AMR][1000 genomes]
rs11211065	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059608	1.00[AMR][1000 genomes]
rs12061569	0.98[AFR][1000 genomes]
rs12063958	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12068434	0.93[AFR][1000 genomes]
rs12073834	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084076	0.89[AMR][1000 genomes]
rs12084469	0.98[AFR][1000 genomes]
rs12084731	1.00[AMR][1000 genomes]
rs12086670	0.96[AFR][1000 genomes]
rs12087439	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089789	1.00[AMR][1000 genomes]
rs12092185	0.93[AFR][1000 genomes]
rs28848532	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57180038	1.00[AMR][1000 genomes]
rs58263876	1.00[AMR][1000 genomes]
rs60060850	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61027524	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61498433	0.96[AFR][1000 genomes]
rs61741088	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6429555	0.93[AFR][1000 genomes]
rs6671064	1.00[AMR][1000 genomes]
rs6671639	1.00[AMR][1000 genomes]
rs6671658	1.00[AMR][1000 genomes]
rs6682367	1.00[AMR][1000 genomes]
rs72885257	1.00[AMR][1000 genomes]
rs72885265	1.00[AMR][1000 genomes]
rs72885293	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887005	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887019	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887047	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887050	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887057	0.98[AFR][1000 genomes]
rs72887059	0.98[AFR][1000 genomes]
rs72887092	0.91[AFR][1000 genomes]
rs7512020	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547844	0.87[AMR][1000 genomes]
rs7555900	1.00[AMR][1000 genomes]
rs9728837	1.00[AMR][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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45452800-45466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:45452800-45467800	Weak transcription	Osteobl	bone
3	chr1:45452800-45475200	Weak transcription	Right Atrium	heart
4	chr1:45454600-45467800	Weak transcription	K562	blood
5	chr1:45459800-45466400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:45459800-45468400	Weak transcription	Fetal Lung	lung
7	chr1:45460200-45467600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:45460400-45466000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:45460600-45467000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:45460800-45465400	Weak transcription	Adipose Nuclei	Adipose
11	chr1:45460800-45468400	Weak transcription	HepG2	liver
12	chr1:45463400-45466600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:45463800-45466800	Weak transcription	Fetal Stomach	stomach
14	chr1:45464000-45466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:45464200-45466600	Weak transcription	Fetal Brain Female	brain
16	chr1:45464400-45466800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:45464400-45466800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:45464400-45467200	Weak transcription	Brain Germinal Matrix	brain
19	chr1:45464400-45467400	Weak transcription	Esophagus	oesophagus
20	chr1:45464400-45467600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:45464600-45466800	Weak transcription	Primary T cells from cord blood	blood
22	chr1:45464600-45467000	Weak transcription	Colonic Mucosa	Colon
23	chr1:45464600-45468000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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