Variant report

Variant	rs1527957
Chromosome Location	chr7:39112090-39112091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39109858..39114276-chr7:39116660..39120717,5	K562	blood:
2	chr7:39103596..39105131-chr7:39111658..39114423,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10224345	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];1.00[ASN][1000 genomes]
rs10234489	0.89[CEU][hapmap];0.89[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235824	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10248402	1.00[ASN][1000 genomes]
rs10254999	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs10269214	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277485	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10480173	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs1229057	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1405987	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1525790	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525796	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs1527951	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs1527953	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1534415	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881131	1.00[CEU][hapmap];0.87[GIH][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950001	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140910	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2893570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4294102	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4452709	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4499996	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4499997	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4507668	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs4588755	1.00[ASN][1000 genomes]
rs4720310	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs4723826	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723830	1.00[ASN][1000 genomes]
rs6462893	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs6955794	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs6971923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976988	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs702820	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73122445	1.00[ASN][1000 genomes]
rs73126431	1.00[ASN][1000 genomes]
rs73126469	1.00[ASN][1000 genomes]
rs7778249	1.00[ASN][1000 genomes]
rs7778299	1.00[ASN][1000 genomes]
rs7787883	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs859513	1.00[ASN][1000 genomes]
rs859542	1.00[ASN][1000 genomes]
rs859545	1.00[ASN][1000 genomes]
rs859546	1.00[ASN][1000 genomes]
rs859549	1.00[CHB][hapmap]
rs859550	1.00[CHB][hapmap]
rs859551	1.00[CHB][hapmap]
rs859552	1.00[CHB][hapmap]
rs859553	1.00[CHB][hapmap]
rs9986786	1.00[ASN][1000 genomes]
rs9987012	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][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	nsv1024142	chr7:38978728-39300444	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1527957	INHBA	cis	cerebellum	SCAN
rs1527957	ANLN	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39109000-39112600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:39109200-39112400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:39109200-39112600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:39109600-39113800	Weak transcription	Placenta	Placenta
5	chr7:39111600-39112600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:39111800-39113200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:39111800-39113600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:39112000-39112200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr7:39112000-39112600	Active TSS	Fetal Brain Male	brain
10	chr7:39112000-39112800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:39112000-39113200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:39112000-39113800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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