Variant report

Variant	rs12128305
Chromosome Location	chr1:57787518-57787519
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10047071	0.86[JPT][hapmap]
rs10047073	0.86[JPT][hapmap]
rs10493219	0.86[JPT][hapmap]
rs10493225	1.00[JPT][hapmap]
rs10889034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10889044	0.86[JPT][hapmap]
rs11207007	0.86[ASN][1000 genomes]
rs11207010	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11207011	1.00[JPT][hapmap]
rs1149630	0.86[ASN][1000 genomes]
rs11585751	0.86[JPT][hapmap]
rs11589921	0.84[ASN][1000 genomes]
rs12044912	1.00[JPT][hapmap]
rs12046102	1.00[JPT][hapmap]
rs12061812	0.96[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12087888	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12132685	1.00[JPT][hapmap]
rs12136107	0.86[JPT][hapmap]
rs12137169	0.86[JPT][hapmap]
rs12137583	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12142821	0.96[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12240237	0.86[JPT][hapmap]
rs1240439	0.83[ASN][1000 genomes]
rs1240442	0.86[JPT][hapmap]
rs12405761	0.86[JPT][hapmap]
rs12568449	1.00[JPT][hapmap]
rs12726704	1.00[JPT][hapmap]
rs12752978	1.00[JPT][hapmap]
rs1334239	1.00[JPT][hapmap]
rs1334240	1.00[JPT][hapmap]
rs1424463	0.85[JPT][hapmap]
rs1424467	0.84[JPT][hapmap]
rs166514	1.00[JPT][hapmap]
rs17115686	0.86[JPT][hapmap]
rs17424216	0.86[JPT][hapmap]
rs17425017	0.86[JPT][hapmap];1.00[YRI][hapmap]
rs17425189	1.00[JPT][hapmap]
rs17456661	0.96[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17459384	0.86[JPT][hapmap];1.00[YRI][hapmap]
rs17459948	1.00[JPT][hapmap]
rs2216808	0.86[JPT][hapmap]
rs2405696	0.86[JPT][hapmap]
rs2405994	0.86[JPT][hapmap]
rs267638	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs267646	0.83[ASN][1000 genomes]
rs267647	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs267650	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs267651	0.81[ASN][1000 genomes]
rs2781325	1.00[JPT][hapmap]
rs28706213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs374845	0.86[ASN][1000 genomes]
rs390203	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3909556	0.86[JPT][hapmap]
rs4279875	1.00[JPT][hapmap]
rs439378	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4912162	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4912163	0.96[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4912237	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4912244	0.86[JPT][hapmap]
rs55863020	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6587767	0.81[ASN][1000 genomes]
rs6668257	0.82[ASN][1000 genomes]
rs6669975	1.00[JPT][hapmap]
rs736109	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs736110	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs746937	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7513076	0.86[JPT][hapmap]
rs7535763	0.86[JPT][hapmap]
rs924848	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs94216	0.86[ASN][1000 genomes]
rs9436130	1.00[JPT][hapmap]

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	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv871943	chr1:57784144-57855876	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:57773200-57790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:57776600-57790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57785200-57790000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:57785200-57793800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:57785400-57790400	Weak transcription	Fetal Brain Female	brain
6	chr1:57786000-57789800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:57786000-57790200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:57787000-57787600	Enhancers	Fetal Intestine Large	intestine
9	chr1:57787200-57793800	Weak transcription	Fetal Brain Male	brain
10	chr1:57787400-57787600	Enhancers	Cortex derived primary cultured neurospheres	brain

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