Variant report

Variant	rs274163
Chromosome Location	chr19:56685914-56685915
allele	C/T
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	JUN	chr19:56685724-56686531	K562	blood:	n/a	chr19:56686099-56686112 chr19:56686103-56686112
2	ZNF263	chr19:56685450-56686090	HEK293-T-REx	kidney:	n/a	chr19:56685604-56685625 chr19:56685608-56685617

No.	Distal block	Cell Line	Cell type
1	chr19:56619067..56621819-chr19:56683473..56686134,2	K562	blood:
2	chr19:56654434..56656052-chr19:56684107..56686255,2	K562	blood:
3	chr19:56651843..56653969-chr19:56684721..56686741,2	MCF-7	breast:

Variant related genes	Relation type
GALP	TF binding region
ENSG00000167685	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16987029	1.00[JPT][hapmap]
rs16987031	1.00[JPT][hapmap]
rs2631642	0.85[EUR][1000 genomes]
rs2631652	0.92[EUR][1000 genomes]
rs274141	0.89[EUR][1000 genomes]
rs274144	0.89[EUR][1000 genomes]
rs274145	0.89[EUR][1000 genomes]
rs274146	0.87[EUR][1000 genomes]
rs274151	0.85[EUR][1000 genomes]
rs274154	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs274155	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs274156	1.00[CEU][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs274159	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs274164	0.83[EUR][1000 genomes]
rs274165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs274167	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs274168	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs274182	0.89[CEU][hapmap]
rs3103059	0.89[EUR][1000 genomes]
rs3103060	0.89[EUR][1000 genomes]
rs3745831	0.80[JPT][hapmap]
rs480528	0.92[EUR][1000 genomes]
rs481291	0.92[EUR][1000 genomes]
rs487922	0.89[EUR][1000 genomes]
rs488196	0.89[EUR][1000 genomes]
rs565171	0.92[EUR][1000 genomes]
rs581486	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs61283021	0.92[EUR][1000 genomes]
rs650832	0.89[EUR][1000 genomes]
rs652204	0.91[EUR][1000 genomes]
rs671061	0.92[EUR][1000 genomes]
rs679082	0.85[EUR][1000 genomes]
rs901476	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
10	nsv528361	chr19:56638845-56688570	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56673000-56690000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr19:56682000-56686400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:56682000-56687000	Weak transcription	Spleen	Spleen
4	chr19:56683600-56686600	Weak transcription	Liver	Liver
5	chr19:56685400-56686000	Bivalent Enhancer	HepG2	liver
6	chr19:56685400-56687200	Enhancers	K562	blood
7	chr19:56685600-56687400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr19:56685600-56687600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:56685600-56688600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:56685800-56686800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:56685800-56688000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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