Variant report

Variant	rs4414314
Chromosome Location	chr12:118022556-118022557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11068551	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068579	0.82[EUR][1000 genomes]
rs11068580	0.82[EUR][1000 genomes]
rs11611523	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11611561	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11612054	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2393237	0.82[EUR][1000 genomes]
rs34393249	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35920368	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767570	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4767571	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7131858	0.80[EUR][1000 genomes]
rs816196	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4414314	KSR2	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118019000-118025000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:118021200-118022800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr12:118021200-118023000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:118021600-118022600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:118021800-118023600	Weak transcription	Brain Germinal Matrix	brain
6	chr12:118021800-118036800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:118022000-118022600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:118022000-118022600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:118022000-118023200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:118022200-118022600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr12:118022200-118022600	Enhancers	Brain Anterior Caudate	brain
12	chr12:118022200-118023800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:118022400-118022600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:118022400-118022800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:118022400-118023000	Enhancers	iPS DF 19.11 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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