Variant report

Variant	rs426443
Chromosome Location	chr12:42000774-42000775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17129591	1.00[ASN][1000 genomes]
rs17129603	1.00[ASN][1000 genomes]
rs185937	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286976	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs286977	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286981	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs286982	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs286994	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs286995	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286998	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs287034	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287035	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs287036	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287038	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs287040	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs287041	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287045	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs287046	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287047	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287049	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287051	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407628	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59284651	1.00[ASN][1000 genomes]
rs60761629	0.99[ASN][1000 genomes]
rs7308874	0.98[ASN][1000 genomes]
rs7310375	0.98[ASN][1000 genomes]
rs754143	1.00[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	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41998400-42001400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:41998600-42001200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:41998800-42001000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:41998800-42001000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:41998800-42001200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:41998800-42001200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:41998800-42001200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:41998800-42001200	Enhancers	Fetal Kidney	kidney
9	chr12:41998800-42001400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:41998800-42001400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:41998800-42001400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:41999200-42001400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:41999400-42001200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:41999600-42001200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:41999600-42001200	Enhancers	Brain Germinal Matrix	brain
16	chr12:41999800-42001200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:42000200-42001000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:42000200-42003800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:42000600-42012000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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