Variant report

Variant	rs12029015
Chromosome Location	chr1:171920751-171920752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1022541	0.85[EUR][1000 genomes]
rs1040517	0.80[EUR][1000 genomes]
rs10753202	0.81[EUR][1000 genomes]
rs10753203	0.81[EUR][1000 genomes]
rs10753204	0.81[EUR][1000 genomes]
rs10798705	0.81[EUR][1000 genomes]
rs10798722	0.82[EUR][1000 genomes]
rs10798725	0.81[EUR][1000 genomes]
rs10798726	0.84[EUR][1000 genomes]
rs10913908	0.81[EUR][1000 genomes]
rs12021814	0.85[EUR][1000 genomes]
rs12024869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12025243	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12040254	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12047542	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747663	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535301	0.86[EUR][1000 genomes]
rs1555100	0.84[EUR][1000 genomes]
rs1972340	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1980488	0.84[EUR][1000 genomes]
rs2145383	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34906981	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4596936	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4916235	0.82[EUR][1000 genomes]
rs4916404	0.81[EUR][1000 genomes]
rs4916411	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6425456	0.81[EUR][1000 genomes]
rs6425468	0.84[EUR][1000 genomes]
rs6425484	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6425518	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6660011	0.81[EUR][1000 genomes]
rs6665335	0.82[EUR][1000 genomes]
rs6679341	0.84[EUR][1000 genomes]
rs6686260	0.86[EUR][1000 genomes]
rs6689231	0.87[CHB][hapmap];0.84[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6690848	0.86[EUR][1000 genomes]
rs71523161	0.86[EUR][1000 genomes]
rs7526653	0.81[EUR][1000 genomes]
rs7554700	0.84[EUR][1000 genomes]
rs7554935	0.84[EUR][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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171906600-171923200	Weak transcription	Fetal Kidney	kidney
2	chr1:171907000-171923000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:171909400-171922400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:171909800-171923200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:171916200-171929200	Weak transcription	Pancreas	Pancrea
6	chr1:171917800-171923000	Weak transcription	Brain Substantia Nigra	brain
7	chr1:171919200-171920800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:171919400-171920800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:171920400-171921200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:171920400-171921600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:171920400-171923000	Weak transcription	Fetal Brain Male	brain
12	chr1:171920600-171921600	Enhancers	HUES64 Cell Line	embryonic stem cell

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