Variant report

Variant	rs2531363
Chromosome Location	chr19:40565669-40565670
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr19:40565528-40565721	K562	blood:	n/a	n/a
2	CBX3	chr19:40565462-40565795	K562	blood:	n/a	n/a
3	SETDB1	chr19:40565186-40566432	U2OS	brain:	n/a	n/a
4	ZNF143	chr19:40565552-40565749	K562	blood:	n/a	n/a
5	KAP1	chr19:40565220-40566080	K562	blood:	n/a	n/a
6	CBX3	chr19:40565486-40565867	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40561902..40564194-chr19:40564354..40569347,4	K562	blood:
2	chr19:40554959..40556477-chr19:40565054..40566887,2	K562	blood:
3	chr19:40561268..40563176-chr19:40564032..40566450,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF780B	TF binding region
ENSG00000128000	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10414087	1.00[ASN][1000 genomes]
rs10418532	1.00[ASN][1000 genomes]
rs10421829	1.00[CHB][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10424773	1.00[ASN][1000 genomes]
rs11881677	1.00[ASN][1000 genomes]
rs11882464	1.00[ASN][1000 genomes]
rs11882490	1.00[ASN][1000 genomes]
rs163212	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973959	1.00[CHB][hapmap]
rs17756648	0.83[ASN][1000 genomes]
rs234316	0.90[YRI][hapmap]
rs234319	0.82[YRI][hapmap]
rs234321	0.81[YRI][hapmap]
rs234322	0.85[YRI][hapmap]
rs234327	0.85[YRI][hapmap]
rs234329	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234347	1.00[CHB][hapmap]
rs234348	1.00[CHB][hapmap]
rs234359	0.96[YRI][hapmap]
rs234362	1.00[CHB][hapmap]
rs234363	1.00[CHB][hapmap]
rs234367	1.00[CHB][hapmap]
rs234369	1.00[CHB][hapmap]
rs2542311	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs28669038	1.00[ASN][1000 genomes]
rs337796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383975	1.00[ASN][1000 genomes]
rs399405	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445379	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517342	1.00[ASN][1000 genomes]
rs520877	1.00[ASN][1000 genomes]
rs526467	1.00[ASN][1000 genomes]
rs532235	1.00[ASN][1000 genomes]
rs563703	1.00[ASN][1000 genomes]
rs589279	1.00[ASN][1000 genomes]
rs589404	1.00[ASN][1000 genomes]
rs60798356	0.87[EUR][1000 genomes]
rs62106576	1.00[ASN][1000 genomes]
rs62106577	1.00[ASN][1000 genomes]
rs62106578	1.00[ASN][1000 genomes]
rs62106580	0.83[ASN][1000 genomes]
rs62106581	0.83[ASN][1000 genomes]
rs62106584	1.00[ASN][1000 genomes]
rs62106585	1.00[ASN][1000 genomes]
rs62106586	1.00[ASN][1000 genomes]
rs62106587	1.00[ASN][1000 genomes]
rs62106588	1.00[ASN][1000 genomes]
rs62106589	1.00[ASN][1000 genomes]
rs62106590	1.00[ASN][1000 genomes]
rs62106591	1.00[ASN][1000 genomes]
rs62106625	1.00[ASN][1000 genomes]
rs62106626	1.00[ASN][1000 genomes]
rs62108934	1.00[ASN][1000 genomes]
rs62110063	1.00[ASN][1000 genomes]
rs623196	1.00[ASN][1000 genomes]
rs636313	1.00[ASN][1000 genomes]
rs649239	1.00[ASN][1000 genomes]
rs6508931	1.00[ASN][1000 genomes]
rs6508932	1.00[ASN][1000 genomes]
rs667850	1.00[ASN][1000 genomes]
rs7250244	1.00[ASN][1000 genomes]
rs7250298	1.00[ASN][1000 genomes]
rs7259136	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7260610	1.00[CHB][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73551672	0.83[ASN][1000 genomes]
rs73553618	1.00[ASN][1000 genomes]
rs8103746	1.00[ASN][1000 genomes]
rs8103807	1.00[ASN][1000 genomes]
rs8105260	1.00[ASN][1000 genomes]
rs8108062	1.00[ASN][1000 genomes]
rs8108857	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40562600-40579200	Weak transcription	Left Ventricle	heart
2	chr19:40562600-40579400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:40563400-40566200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:40565200-40566000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:40565200-40566000	ZNF genes & repeats	Liver	Liver
6	chr19:40565400-40566000	Active TSS	Fetal Heart	heart
7	chr19:40565600-40566000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:40565600-40566000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
9	chr19:40565600-40566000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle

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