Variant report

Variant	rs4763798
Chromosome Location	chr12:12447025-12447026
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12419573..12422125-chr12:12444643..12447175,2	K562	blood:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

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

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

rs_ID	r²[population]
rs10845509	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10845514	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs10845515	0.81[CEU][hapmap]
rs1420732	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1420733	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4763797	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];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7976685	0.84[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap];0.87[ASN][1000 genomes]
rs7980467	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7980573	0.82[EUR][1000 genomes];0.93[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

No data

Chromatin state (count:23 , 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	chr12:12443600-12447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:12446000-12448200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:12446200-12448200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:12446400-12447200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:12446600-12448200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:12446600-12449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:12446800-12447200	Flanking Active TSS	Liver	Liver
11	chr12:12446800-12448200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:12446800-12449000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:12447000-12447800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:12447000-12447800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:12447000-12447800	Enhancers	Fetal Lung	lung
16	chr12:12447000-12447800	Enhancers	Ovary	ovary
17	chr12:12447000-12447800	Enhancers	Spleen	Spleen
18	chr12:12447000-12448000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr12:12447000-12448000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:12447000-12448000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:12447000-12448000	Enhancers	Colon Smooth Muscle	Colon
22	chr12:12447000-12448200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:12447000-12448200	Enhancers	HUVEC	blood vessel

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