Variant report

Variant	rs4763797
Chromosome Location	chr12:12446933-12446934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10845509	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10845514	0.81[CEU][hapmap]
rs1420732	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1420733	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1894984	0.81[ASW][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap]
rs4763798	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7970052	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7976685	0.81[ASW][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.88[YRI][hapmap];0.88[ASN][1000 genomes]
rs7980467	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7980573	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4763797	KLRF1	cis	parietal	SCAN
rs4763797	CLECL1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12437000-12447600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:12443400-12447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:12443400-12447400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:12443600-12447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:12443600-12447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:12443800-12447000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:12444600-12447000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:12446000-12448200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:12446200-12448200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:12446400-12447200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:12446600-12448200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:12446600-12449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:12446800-12447200	Flanking Active TSS	Liver	Liver
14	chr12:12446800-12448200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:12446800-12449000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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