Variant report

Variant	rs58390446
Chromosome Location	chr19:56638099-56638100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56636040..56638265-chr19:56651210..56653201,2	K562	blood:
2	chr19:56637204..56640116-chr19:56644041..56647745,4	K562	blood:
3	chr19:56637526..56639987-chr19:56654517..56657150,2	MCF-7	breast:
4	chr19:56635952..56638231-chr19:56646331..56649019,3	MCF-7	breast:
5	chr19:56630485..56634048-chr19:56635782..56640573,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167685	Chromatin interaction
ENSG00000142409	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56725337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57889563	1.00[AMR][1000 genomes]
rs665082	0.84[AFR][1000 genomes]
rs73615730	1.00[AMR][1000 genomes]
rs73615731	1.00[AMR][1000 genomes]
rs73615733	1.00[AMR][1000 genomes]
rs73615737	1.00[AMR][1000 genomes]
rs73615742	1.00[AMR][1000 genomes]
rs73615748	1.00[AMR][1000 genomes]
rs73615758	1.00[AMR][1000 genomes]
rs73615764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615765	1.00[AMR][1000 genomes]
rs73615768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615775	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615780	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615796	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv833883	chr19:56512601-56640089	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56633600-56638400	Weak transcription	Spleen	Spleen
2	chr19:56633600-56638800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:56633600-56639400	Enhancers	Primary T cells from cord blood	blood
4	chr19:56634000-56640800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr19:56634000-56645400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:56634400-56638400	Enhancers	Fetal Thymus	thymus
7	chr19:56636200-56639200	Enhancers	Fetal Muscle Trunk	muscle
8	chr19:56636200-56639200	Enhancers	Fetal Muscle Leg	muscle
9	chr19:56636800-56638400	Enhancers	Placenta	Placenta
10	chr19:56636800-56638600	Enhancers	Pancreas	Pancrea
11	chr19:56636800-56639000	Enhancers	Colonic Mucosa	Colon
12	chr19:56637000-56639200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr19:56637400-56645400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:56637800-56638400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:56637800-56638600	Enhancers	HSMM	muscle
16	chr19:56637800-56638600	Enhancers	HSMMtube	muscle
17	chr19:56637800-56639200	Enhancers	HepG2	liver
18	chr19:56637800-56639200	Enhancers	K562	blood
19	chr19:56637800-56640800	Weak transcription	Fetal Lung	lung
20	chr19:56637800-56643200	Weak transcription	Fetal Stomach	stomach
21	chr19:56637800-56645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr19:56637800-56647600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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