Variant report

Variant	rs12721417
Chromosome Location	chr12:48347143-48347144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12721414	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12721423	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12721428	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12814542	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12821733	0.83[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12822608	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1859448	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2070739	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2158514	0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2286023	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2286025	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28594309	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34433333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34829929	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36029544	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3923693	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4288816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48338400-48348800	Enhancers	HMEC	breast
2	chr12:48341200-48347600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48341800-48347600	Weak transcription	Fetal Lung	lung
4	chr12:48343800-48347600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:48344000-48347800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:48344200-48347600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:48344400-48347200	Weak transcription	Liver	Liver
8	chr12:48344400-48349000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:48345200-48347800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:48345200-48348800	Enhancers	NHEK	skin
11	chr12:48345800-48348400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:48346000-48347200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:48346000-48347400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:48346600-48347200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:48346600-48348600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:48346800-48349200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr12:48347000-48347400	Weak transcription	Colonic Mucosa	Colon
18	chr12:48347000-48349400	Enhancers	Placenta	Placenta

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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