Variant report

Variant	rs12134279
Chromosome Location	chr1:197781198-197781199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12117045	0.83[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12121863	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12123169	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12354257	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1539414	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16841904	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes]
rs16841912	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[EUR][1000 genomes]
rs17641524	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs1775452	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2477077	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2488389	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2488393	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2488397	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2488398	0.94[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs2488401	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs3900909	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4915567	0.87[ASN][1000 genomes]
rs9427672	0.83[ASN][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Primary biliary cirrhosis	21399635	GWAS catalog

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197771600-197784000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:197776400-197782600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:197776600-197785400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:197776800-197782800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:197777800-197782800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:197778800-197783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:197779400-197781600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:197780200-197783000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:197780400-197781600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:197780600-197781400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:197780600-197781600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:197780600-197781600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:197780600-197781600	Enhancers	Fetal Heart	heart
14	chr1:197780600-197782800	Weak transcription	Left Ventricle	heart
15	chr1:197780800-197781800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:197780800-197782800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:197781000-197781200	Enhancers	HepG2	liver

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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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