Variant report

Variant	rs274159
Chromosome Location	chr19:56683868-56683869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56682699..56684265-chr19:56686805..56689043,2	K562	blood:
2	chr19:56587474..56588459-chr19:56682965..56683942,4	MCF-7	breast:
3	chr19:56616140..56616760-chr19:56683418..56683934,2	MCF-7	breast:
4	chr19:56619067..56621819-chr19:56683473..56686134,2	K562	blood:
5	chr19:56616234..56617536-chr19:56682954..56683960,8	MCF-7	breast:
6	chr19:56666238..56667090-chr19:56683427..56683991,2	K562	blood:
7	chr19:56587463..56588432-chr19:56682914..56684123,6	K562	blood:
8	chr19:56577555..56578345-chr19:56683409..56683940,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223060	Chromatin interaction
ENSG00000267522	Chromatin interaction
ENSG00000197487	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16987029	0.89[JPT][hapmap]
rs16987031	0.89[JPT][hapmap]
rs2631642	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2631652	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs274141	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs274144	0.89[EUR][1000 genomes]
rs274145	0.89[EUR][1000 genomes]
rs274146	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs274151	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs274154	0.90[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs274155	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs274156	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs274163	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];0.90[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs274167	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs274168	0.90[CEU][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes]
rs274182	0.89[CEU][hapmap]
rs3103059	0.89[EUR][1000 genomes]
rs3103060	0.89[EUR][1000 genomes]
rs480528	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs481291	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs487922	0.89[EUR][1000 genomes]
rs488196	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs565171	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs581486	0.90[CEU][hapmap];0.85[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61283021	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs650832	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs652204	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs671061	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs679082	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs901476	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56672600-56684200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:56672600-56685600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:56673000-56690000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:56682000-56686400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:56682000-56687000	Weak transcription	Spleen	Spleen
6	chr19:56682200-56685400	Weak transcription	K562	blood
7	chr19:56683200-56684000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:56683600-56686600	Weak transcription	Liver	Liver

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