Variant report

Variant	rs74074117
Chromosome Location	chr1:57636477-57636478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10489464	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206988	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11206991	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026905	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041971	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077019	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115247	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074241	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7542527	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9970799	0.95[EUR][1000 genomes];1.00[ASN][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57624000-57644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:57631800-57636800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:57632000-57636600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:57632000-57636600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:57632000-57637000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:57632000-57637400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:57632000-57637800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:57633400-57639800	Weak transcription	Fetal Intestine Large	intestine
9	chr1:57634200-57636800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:57635400-57636600	Strong transcription	Fetal Intestine Small	intestine
11	chr1:57636000-57637800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:57636200-57636800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:57636400-57636800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:57636400-57637000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:57636400-57637600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:57636400-57637800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:57636400-57637800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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