Variant report

Variant	rs12581743
Chromosome Location	chr12:47050360-47050361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46759539..46761934-chr12:47049839..47051650,2	K562	blood:
2	chr12:46775095..46777364-chr12:47048885..47051063,3	K562	blood:
3	chr12:46751583..46753293-chr12:47049684..47052247,2	K562	blood:
4	chr12:46661281..46663244-chr12:47050206..47052004,2	MCF-7	breast:
5	chr12:46824063..46826118-chr12:47049459..47052232,2	K562	blood:
6	chr12:46921968..46923986-chr12:47049512..47051191,2	MCF-7	breast:
7	chr12:46775232..46777174-chr12:47048915..47051052,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11183519	0.82[AMR][1000 genomes]
rs11183551	0.86[AMR][1000 genomes]
rs12301825	0.81[AMR][1000 genomes]
rs12311952	0.84[AMR][1000 genomes]
rs12318944	0.82[AMR][1000 genomes]
rs12579010	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12579419	0.96[AMR][1000 genomes]
rs12579984	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12580176	0.94[AMR][1000 genomes]
rs1266371	0.84[AMR][1000 genomes]
rs17097079	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17097091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17097141	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1946174	0.85[AMR][1000 genomes]
rs1986154	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2160892	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2287470	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2408616	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2897979	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4351902	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4768124	0.82[AMR][1000 genomes]
rs4768126	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4768738	0.93[ASN][1000 genomes]
rs4768740	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4768746	0.83[ASN][1000 genomes]
rs4768747	0.91[ASN][1000 genomes]
rs4768749	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57616927	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58806862	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59408501	0.82[AMR][1000 genomes]
rs7132144	0.80[AMR][1000 genomes]
rs7133051	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7310614	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7311414	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7315740	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73282105	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73282110	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7487359	0.82[AMR][1000 genomes]
rs7959179	0.89[ASN][1000 genomes]
rs7971812	0.86[ASN][1000 genomes]
rs7976531	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7976785	0.80[AMR][1000 genomes]
rs7979449	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47036800-47051400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47041000-47054200	Weak transcription	Fetal Kidney	kidney
3	chr12:47042200-47051800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:47042200-47054800	Weak transcription	Fetal Intestine Small	intestine
5	chr12:47043400-47053800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:47046400-47069800	Weak transcription	Pancreas	Pancrea
7	chr12:47046800-47051800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:47046800-47057000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:47048000-47051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:47048200-47051600	Weak transcription	NHEK	skin
11	chr12:47048600-47052600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:47048600-47053000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:47049200-47053600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:47049400-47053400	Weak transcription	Primary B cells from cord blood	blood
15	chr12:47049800-47050400	Weak transcription	Aorta	Aorta

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