Variant report

Variant	rs73043029
Chromosome Location	chr19:38845208-38845209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:38845160-38845310	GM12865	blood:	n/a	n/a
2	CTCF	chr19:38845194-38845210	HepG2	liver:	n/a	n/a
3	RAD21	chr19:38845054-38845352	HepG2	liver:	n/a	chr19:38845288-38845300 chr19:38845288-38845298 chr19:38845192-38845204
4	CTCF	chr19:38845138-38845233	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38836037..38838092-chr19:38843539..38846301,2	K562	blood:
2	chr19:38839098..38841898-chr19:38845182..38848381,4	K562	blood:
3	chr19:38841295..38843192-chr19:38844976..38847519,3	MCF-7	breast:

Variant related genes	Relation type
CATSPERG	TF binding region
ENSG00000238838	Chromatin interaction
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11083454	0.81[EUR][1000 genomes]
rs11538289	0.81[EUR][1000 genomes]
rs2302228	0.81[EUR][1000 genomes]
rs3745963	0.81[EUR][1000 genomes]
rs3760884	0.81[EUR][1000 genomes]
rs3885340	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59491640	0.81[EUR][1000 genomes]
rs61734615	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6508792	0.81[EUR][1000 genomes]
rs6508793	0.81[EUR][1000 genomes]
rs7245668	0.81[EUR][1000 genomes]
rs7246085	0.81[EUR][1000 genomes]
rs7246191	0.81[EUR][1000 genomes]
rs7246213	0.81[EUR][1000 genomes]
rs7248540	0.81[EUR][1000 genomes]
rs7248780	0.81[EUR][1000 genomes]
rs7257976	0.81[EUR][1000 genomes]
rs73037321	0.84[EUR][1000 genomes]
rs73037333	0.81[EUR][1000 genomes]
rs73037343	0.84[EUR][1000 genomes]
rs73037346	0.84[EUR][1000 genomes]
rs73041292	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73043012	0.97[EUR][1000 genomes]
rs73043013	0.97[EUR][1000 genomes]
rs73043014	0.97[EUR][1000 genomes]
rs73043015	0.97[EUR][1000 genomes]
rs73043019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73043021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73043022	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73043027	0.97[EUR][1000 genomes]
rs73043028	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73043030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73043033	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73043098	0.84[EUR][1000 genomes]
rs73044905	0.81[EUR][1000 genomes]
rs73044908	0.81[EUR][1000 genomes]
rs73044911	0.81[EUR][1000 genomes]
rs73044915	0.81[EUR][1000 genomes]
rs73044917	0.81[EUR][1000 genomes]
rs73044919	0.81[EUR][1000 genomes]
rs73044926	0.81[EUR][1000 genomes]
rs73044928	0.81[EUR][1000 genomes]
rs73044930	0.81[EUR][1000 genomes]
rs73044932	0.81[EUR][1000 genomes]
rs73044937	0.81[EUR][1000 genomes]
rs73044942	0.81[EUR][1000 genomes]
rs73044944	0.81[EUR][1000 genomes]
rs73044946	0.81[EUR][1000 genomes]
rs73044947	0.81[EUR][1000 genomes]
rs73044948	0.81[EUR][1000 genomes]
rs73044953	0.81[EUR][1000 genomes]
rs8108440	0.81[EUR][1000 genomes]
rs8109713	0.81[EUR][1000 genomes]
rs8112499	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38828200-38852000	Weak transcription	Right Atrium	heart
2	chr19:38835200-38847000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:38835200-38852000	Weak transcription	Pancreas	Pancrea
4	chr19:38843000-38850400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:38844800-38845400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:38844800-38847400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:38845000-38845400	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr19:38845000-38845400	Active TSS	Spleen	Spleen
9	chr19:38845000-38845600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:38845200-38845400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:38845200-38845400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:38845200-38846000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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