Variant report

Variant	rs740868
Chromosome Location	chr19:56894066-56894067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56892466..56895043-chr19:56896367..56898392,2	K562	blood:

Variant related genes	Relation type
ENSG00000267781	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2288859	0.95[JPT][hapmap]
rs7257019	0.98[ASN][1000 genomes]
rs8101813	1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs740868	RPS5	cis	parietal	SCAN
rs740868	ZNF304	cis	cerebellum	SCAN
rs740868	ZNF544	cis	cerebellum	SCAN
rs740868	DUXA	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56881200-56904000	ZNF genes & repeats	Liver	Liver
2	chr19:56889200-56897400	Weak transcription	Gastric	stomach
3	chr19:56889200-56901200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:56889200-56904400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:56889400-56895200	Weak transcription	Brain Angular Gyrus	brain
6	chr19:56889400-56895400	Weak transcription	Brain Substantia Nigra	brain
7	chr19:56889400-56895600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:56889400-56904000	Weak transcription	Fetal Heart	heart
9	chr19:56889400-56904000	Weak transcription	K562	blood
10	chr19:56890000-56894400	Weak transcription	Brain Anterior Caudate	brain
11	chr19:56890000-56900200	Weak transcription	Right Ventricle	heart
12	chr19:56890200-56894200	Weak transcription	Brain Germinal Matrix	brain
13	chr19:56890200-56895200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:56890200-56895400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr19:56890200-56903600	Weak transcription	Fetal Brain Male	brain
16	chr19:56890400-56894400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr19:56890600-56894600	Weak transcription	Fetal Kidney	kidney
18	chr19:56890600-56895400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:56890600-56900200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:56890600-56900400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:56890600-56904000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:56890800-56894200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr19:56890800-56894400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:56890800-56895200	Weak transcription	Psoas Muscle	Psoas
25	chr19:56890800-56895600	Weak transcription	Left Ventricle	heart
26	chr19:56891200-56895000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:56891200-56895400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr19:56892000-56894400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:56892000-56894800	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:56892000-56894800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr19:56892400-56894200	Weak transcription	Fetal Brain Female	brain
32	chr19:56892400-56894400	Weak transcription	Fetal Lung	lung
33	chr19:56893200-56894200	Weak transcription	Adipose Nuclei	Adipose
34	chr19:56893200-56896400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:56893600-56899800	Weak transcription	Placenta	Placenta
36	chr19:56893600-56900000	Weak transcription	Pancreas	Pancrea

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