Variant report

Variant	rs12701705
Chromosome Location	chr7:39302577-39302578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10807900	0.85[CEU][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12673488	0.81[CEU][hapmap]
rs12701714	0.86[ASN][1000 genomes]
rs12701716	0.82[CHD][hapmap]
rs13222559	0.85[CEU][hapmap];0.87[TSI][hapmap]
rs13233706	0.85[ASN][1000 genomes]
rs4273761	0.86[JPT][hapmap]
rs4302751	0.85[JPT][hapmap]
rs4314553	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4316059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4469355	0.86[JPT][hapmap]
rs4498449	0.82[CHD][hapmap]
rs4530944	0.82[CHD][hapmap]
rs4551233	0.82[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs4582444	0.82[CHD][hapmap]
rs62453447	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62453457	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6949878	0.86[ASN][1000 genomes]
rs9648478	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015572	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv538821	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv887969	chr7:39265429-39391875	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12701705	ANLN	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39293800-39310600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:39299200-39304600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:39299200-39304600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:39299600-39304800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:39299800-39304000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:39299800-39305800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:39300200-39303600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:39300400-39305200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:39301000-39310600	Weak transcription	Fetal Brain Male	brain

Quick Search:

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

what's new

Quick links