Variant report

Variant	rs12989752
Chromosome Location	chr2:141650327-141650328
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10185560	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10189583	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10194398	0.90[ASN][1000 genomes]
rs10496855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12472481	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12691580	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12987572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12993423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12999130	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13001345	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13006054	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13007335	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13007422	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13013928	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13021153	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13022675	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13024879	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13026491	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1429346	1.00[CHB][hapmap]
rs17518049	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2380945	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs34386576	1.00[ASN][1000 genomes]
rs67402821	0.93[ASN][1000 genomes]
rs7562670	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003008	chr2:141518795-141763505	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141648800-141654800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:141649000-141653200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:141649200-141661800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:141649800-141651600	Enhancers	Dnd41	blood
5	chr2:141649800-141652000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:141649800-141652000	Enhancers	HMEC	breast
7	chr2:141650000-141651600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:141650200-141651200	Enhancers	Primary T cells from cord blood	blood
9	chr2:141650200-141651600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:141650200-141654200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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