Variant report

Variant	rs12726704
Chromosome Location	chr1:57958234-57958235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57957161..57959249-chr1:57964483..57967237,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10047071	1.00[JPT][hapmap]
rs10047073	1.00[JPT][hapmap]
rs10493219	1.00[JPT][hapmap]
rs10493225	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10889034	1.00[JPT][hapmap]
rs10889044	1.00[JPT][hapmap]
rs10889047	0.93[ASN][1000 genomes]
rs11207010	1.00[JPT][hapmap]
rs11207011	1.00[JPT][hapmap]
rs11207027	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1155680	0.90[ASN][1000 genomes]
rs11581152	0.86[CEU][hapmap]
rs11584169	0.93[ASN][1000 genomes]
rs11585751	1.00[JPT][hapmap]
rs12044874	0.90[ASN][1000 genomes]
rs12044912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12046102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12061812	1.00[JPT][hapmap]
rs12087888	1.00[JPT][hapmap]
rs12121490	0.87[ASN][1000 genomes]
rs12128305	1.00[JPT][hapmap]
rs12132685	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12136107	1.00[JPT][hapmap]
rs12137169	1.00[JPT][hapmap]
rs12142821	1.00[JPT][hapmap]
rs12240237	0.85[JPT][hapmap]
rs1240442	1.00[JPT][hapmap]
rs12405761	1.00[JPT][hapmap]
rs12407168	0.85[CEU][hapmap]
rs12407896	0.85[CHB][hapmap]
rs12568449	1.00[JPT][hapmap]
rs12752978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1334239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1334240	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs1424463	0.84[JPT][hapmap]
rs1424467	0.82[JPT][hapmap]
rs166514	1.00[JPT][hapmap]
rs17115686	1.00[JPT][hapmap]
rs17424216	1.00[JPT][hapmap]
rs17425017	1.00[JPT][hapmap]
rs17425189	1.00[JPT][hapmap]
rs17427990	0.85[CEU][hapmap]
rs17456661	1.00[JPT][hapmap]
rs17457873	0.82[JPT][hapmap]
rs17459384	1.00[JPT][hapmap]
rs17459948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2216808	1.00[JPT][hapmap]
rs2405696	1.00[JPT][hapmap]
rs2405994	1.00[JPT][hapmap]
rs267638	1.00[JPT][hapmap]
rs267647	1.00[JPT][hapmap]
rs267650	1.00[JPT][hapmap]
rs2691437	0.85[CEU][hapmap]
rs2781325	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs34252256	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35770464	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs390203	1.00[JPT][hapmap]
rs3909556	1.00[JPT][hapmap]
rs4279875	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs439378	1.00[JPT][hapmap]
rs4912163	1.00[JPT][hapmap]
rs4912244	1.00[JPT][hapmap]
rs6669975	1.00[JPT][hapmap]
rs6689292	0.86[CEU][hapmap]
rs736109	1.00[JPT][hapmap]
rs736110	1.00[JPT][hapmap]
rs746937	1.00[JPT][hapmap]
rs7513076	1.00[JPT][hapmap]
rs7535763	1.00[JPT][hapmap]
rs9436130	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1012555	chr1:57950355-58103389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57955200-57972800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:57957200-57958600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:57957200-57958800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:57957400-57958600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:57957600-57958400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:57957600-57958800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:57957800-57958400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:57957800-57958800	Enhancers	Fetal Brain Male	brain
9	chr1:57958200-57958400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:57958200-57958400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:57958200-57958600	Enhancers	HUES48 Cell Line	embryonic stem cell

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