Variant report

Variant	rs483412
Chromosome Location	chr1:57662143-57662144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs155295	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs155298	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs155303	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs155305	0.83[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs264040	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs476466	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs480836	0.84[CEU][hapmap];0.92[EUR][1000 genomes]
rs483280	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs498772	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs512773	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs515477	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs539315	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs561703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570988	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs573385	0.99[ASN][1000 genomes]

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	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57647000-57670600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57657400-57670200	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57658000-57663800	Weak transcription	Fetal Brain Male	brain
4	chr1:57658400-57664200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:57660000-57662200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:57660400-57662200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:57661200-57662200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:57661200-57662200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:57661400-57663800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:57661600-57663600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:57661600-57664200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:57661800-57663200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:57662000-57662200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:57662000-57662200	Enhancers	Fetal Brain Female	brain
15	chr1:57662000-57663800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:57662000-57664000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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