Variant report

Variant	rs2129575
Chromosome Location	chr12:72340073-72340074
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10879350	0.84[TSI][hapmap]
rs11178999	0.88[CEU][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs11179000	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11179023	0.84[TSI][hapmap]
rs11179027	0.84[TSI][hapmap]
rs11179033	0.84[TSI][hapmap]
rs11834114	0.84[TSI][hapmap]
rs12229394	0.84[TSI][hapmap]
rs4570625	1.00[CEU][hapmap];0.95[MEX][hapmap]
rs4641527	0.85[EUR][1000 genomes]
rs6582071	1.00[CEU][hapmap]

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	nsv1048478	chr12:72145703-72401712	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541530	chr12:72145703-72401712	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv518498	chr12:72307616-72508779	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1054578	chr12:72307616-72509341	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72336200-72340400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:72336600-72340400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:72338000-72340800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:72338000-72344800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:72338200-72340800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:72338200-72345200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:72338400-72340400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:72338600-72340600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:72338600-72340600	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:72339000-72340400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:72339200-72340200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:72339200-72340400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:72339200-72340600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:72339200-72340600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:72339200-72341400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:72339400-72340400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:72339800-72342400	Enhancers	Liver	Liver
18	chr12:72340000-72342600	Enhancers	Pancreatic Islets	Pancreatic Islet

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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