Variant report

Variant	rs447783
Chromosome Location	chr19:36340857-36340858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr19:36340842-36340947	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36339670..36341868-chr19:36344808..36347697,2	MCF-7	breast:
2	chr19:36339201..36341036-chr19:36345575..36348442,2	K562	blood:
3	chr19:36336450..36338602-chr19:36340290..36342312,2	K562	blood:
4	chr19:36338551..36341228-chr19:36359496..36361624,3	K562	blood:
5	chr19:36339201..36341065-chr19:36345567..36348442,2	K562	blood:
6	chr19:36336403..36338756-chr19:36340642..36343905,3	MCF-7	breast:
7	chr19:36335676..36337950-chr19:36339601..36341790,2	K562	blood:

No data

Variant related genes	Relation type
NPHS1	TF binding region
ENSG00000161270	Chromatin interaction
ENSG00000126259	Chromatin interaction
ENSG00000105290	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11084834	0.86[EUR][1000 genomes]
rs11880909	0.86[EUR][1000 genomes]
rs11881358	0.86[EUR][1000 genomes]
rs11881364	0.86[EUR][1000 genomes]
rs11881451	0.86[EUR][1000 genomes]
rs16970735	0.86[EUR][1000 genomes]
rs16970737	0.86[EUR][1000 genomes]
rs16970742	0.86[EUR][1000 genomes]
rs16970744	0.86[EUR][1000 genomes]
rs172985	0.86[EUR][1000 genomes]
rs2227909	0.86[EUR][1000 genomes]
rs2285450	0.83[ASN][1000 genomes]
rs230260	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs230261	0.86[EUR][1000 genomes]
rs230262	0.86[EUR][1000 genomes]
rs230263	0.86[EUR][1000 genomes]
rs230264	0.86[EUR][1000 genomes]
rs230265	0.86[EUR][1000 genomes]
rs230266	0.86[EUR][1000 genomes]
rs230267	0.86[EUR][1000 genomes]
rs230269	0.86[EUR][1000 genomes]
rs2871778	0.86[EUR][1000 genomes]
rs34006827	0.86[EUR][1000 genomes]
rs35423326	0.86[EUR][1000 genomes]
rs376240	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs392702	1.00[EUR][1000 genomes]
rs393116	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs401824	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs404299	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs412175	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs417786	1.00[EUR][1000 genomes]
rs437168	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs443186	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55797913	0.86[EUR][1000 genomes]
rs55816190	0.86[EUR][1000 genomes]
rs56117924	0.91[ASN][1000 genomes]
rs56264349	0.86[AMR][1000 genomes]
rs56971278	0.90[EUR][1000 genomes]
rs57053076	0.86[EUR][1000 genomes]
rs57668132	0.86[EUR][1000 genomes]
rs58098901	0.86[EUR][1000 genomes]
rs58109577	0.86[EUR][1000 genomes]
rs58291714	0.81[EUR][1000 genomes]
rs59123406	0.86[EUR][1000 genomes]
rs59582363	0.93[ASN][1000 genomes]
rs59658571	0.86[EUR][1000 genomes]
rs60268250	0.81[EUR][1000 genomes]
rs60576074	0.81[EUR][1000 genomes]
rs60869994	0.81[EUR][1000 genomes]
rs61623584	0.86[EUR][1000 genomes]
rs619833	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7248157	0.91[ASN][1000 genomes]
rs7251744	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7258909	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73590883	0.81[EUR][1000 genomes]
rs73594463	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73928332	0.86[EUR][1000 genomes]
rs73928333	0.86[EUR][1000 genomes]
rs807660	0.86[EUR][1000 genomes]
rs8106732	0.86[EUR][1000 genomes]
rs8110926	0.86[EUR][1000 genomes]
rs8111209	0.86[EUR][1000 genomes]
rs8111348	0.86[EUR][1000 genomes]
rs879407	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9749325	0.86[EUR][1000 genomes]
rs9749492	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3397651	chr19:36326933-36377725	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36337000-36347000	Weak transcription	Right Atrium	heart
2	chr19:36337400-36341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:36340200-36341000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:36340600-36341000	Weak transcription	Pancreas	Pancrea

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