Variant report

Variant	rs12993423
Chromosome Location	chr2:141652749-141652750
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10185560	1.00[CHB][hapmap]
rs10189583	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10496855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12472481	1.00[CHB][hapmap]
rs12691580	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12987572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12989752	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	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13001345	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13006054	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13007335	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13007422	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13013928	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13021153	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13022675	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13024879	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13026491	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1429346	1.00[CHB][hapmap]
rs17518049	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2380945	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs34386576	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67402821	0.82[ASN][1000 genomes]
rs7562670	0.93[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:13 , 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	chr2:141650200-141654200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:141650600-141652800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:141651000-141653000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:141651000-141653400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:141651600-141652800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:141651600-141653000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:141651600-141653000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:141651600-141653400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:141652000-141653200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:141652600-141652800	Enhancers	HUES6 Cell Line	embryonic stem cell

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