Variant report

Variant	rs12720702
Chromosome Location	chr1:186955782-186955783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186950582..186953267-chr1:186955218..186957826,2	K562	blood:
2	chr1:186953469..186956201-chr1:186964885..186967273,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1124429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12720664	1.00[YRI][hapmap]
rs12720684	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12720704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12720707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12720717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2383556	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2891264	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651345	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55834900	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6661772	0.87[AMR][1000 genomes]
rs6675898	1.00[CEU][hapmap]
rs6686848	1.00[CEU][hapmap]
rs6698103	1.00[CEU][hapmap]
rs72709867	0.82[AMR][1000 genomes]
rs72714329	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7511652	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7522159	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7544719	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186923400-186958800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:186947000-186958800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:186948200-186956200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:186948600-186955800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:186948600-186958800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:186949800-186970000	Weak transcription	Hela-S3	cervix
7	chr1:186950400-186961400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:186951800-186956000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:186951800-186956600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:186951800-186960600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:186951800-186963200	Weak transcription	NHEK	skin
12	chr1:186952000-186969800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:186952800-186960600	Weak transcription	Fetal Intestine Small	intestine
14	chr1:186953000-186956200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr1:186953000-186960400	Weak transcription	Small Intestine	intestine
16	chr1:186953000-186963200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:186953200-186957600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:186953200-186970800	Weak transcription	Adipose Nuclei	Adipose
19	chr1:186953600-186969800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:186953800-186959200	Weak transcription	Fetal Lung	lung
21	chr1:186954000-186959800	Weak transcription	Fetal Stomach	stomach
22	chr1:186955000-186959200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:186955400-186961000	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:186955600-186958800	Weak transcription	HUVEC	blood vessel

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