Variant report

Variant	rs34709084
Chromosome Location	chr19:56824716-56824717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr19:56824518-56826341	GM12878	blood:	n/a	chr19:56825320-56825331
2	RUNX3	chr19:56824254-56824723	GM12878	blood:	n/a	chr19:56824525-56824542
3	MAX	chr19:56824500-56824830	K562	blood:	n/a	n/a
4	POLR2A	chr19:56824678-56824766	MCF10A-Er-Src	breast:	n/a	n/a
5	YY1	chr19:56824628-56824765	K562	blood:	n/a	n/a
6	CBX3	chr19:56824486-56824901	K562	blood:	n/a	n/a
7	CHD2	chr19:56824583-56824933	K562	blood:	n/a	n/a
8	ZNF384	chr19:56824564-56824909	K562	blood:	n/a	n/a
9	EGR1	chr19:56824708-56824970	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:56631391..56633030-chr19:56824712..56827583,2	K562	blood:
2	chr19:56824639..56829612-chr19:56829732..56835885,11	K562	blood:
3	chr19:56650916..56653050-chr19:56823772..56825517,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF582-5	chr19:56824652-56824753	NONHSAT068089
2	lnc-ZNF582-5	chr19:56824652-56824753	NONHSAT068090
3	lnc-ZNF582-5	chr19:56824652-56824753	NONHSAT068091
4	lnc-ZNF582-5	chr19:56824652-56824753	NONHSAT068096
5	lnc-ZNF582-5	chr19:56824652-56824749	NONHSAT068092
6	lnc-ZNF582-5	chr19:56824652-56824756	NONHSAT068087

No data

Variant related genes	Relation type
ENSG00000267298	TF binding region
ENSG00000267549	TF binding region
ENSG00000266907	Chromatin interaction
ENSG00000142409	Chromatin interaction
ENSG00000167685	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11668451	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12973009	0.87[EUR][1000 genomes]
rs34008538	0.88[EUR][1000 genomes]
rs34181036	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34833657	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35366276	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35533663	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35560203	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35920556	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7252814	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7253522	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	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
2	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
3	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
4	nsv526325	chr19:56741186-56852035	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	nsv1058026	chr19:56799847-56833153	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1067261	chr19:56820571-56854916	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56782800-56825200	Weak transcription	Psoas Muscle	Psoas
2	chr19:56783000-56825000	Weak transcription	Stomach Mucosa	stomach
3	chr19:56799800-56825200	Weak transcription	Right Atrium	heart
4	chr19:56803200-56825000	Weak transcription	Colon Smooth Muscle	Colon
5	chr19:56804400-56825000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:56804600-56825000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr19:56805200-56825400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:56806000-56825000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:56806400-56825200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:56806400-56825200	Weak transcription	Brain Hippocampus Middle	brain
11	chr19:56806400-56825200	Weak transcription	NH-A	brain
12	chr19:56806600-56825000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:56807000-56825200	Weak transcription	NHLF	lung
14	chr19:56807800-56825000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:56807800-56825200	Weak transcription	Brain Germinal Matrix	brain
16	chr19:56807800-56825200	Weak transcription	Colonic Mucosa	Colon
17	chr19:56807800-56825200	Weak transcription	Esophagus	oesophagus
18	chr19:56808200-56825000	Weak transcription	HMEC	breast
19	chr19:56810000-56825200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:56813600-56825000	Weak transcription	Fetal Heart	heart
21	chr19:56813600-56825200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:56813600-56825200	Weak transcription	Left Ventricle	heart
23	chr19:56813800-56825000	Weak transcription	HUVEC	blood vessel
24	chr19:56814000-56825200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr19:56814200-56825000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:56814200-56825200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:56814400-56824800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr19:56814400-56825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:56814400-56825200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:56814400-56825200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:56814400-56825400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:56814600-56825000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:56815400-56825000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:56815600-56825000	Weak transcription	HSMMtube	muscle
35	chr19:56815600-56825200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr19:56816200-56825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:56816400-56825000	Weak transcription	Brain Substantia Nigra	brain
38	chr19:56816400-56825200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr19:56816800-56825000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr19:56817400-56825200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:56817600-56825000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:56817600-56825200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:56817600-56825200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:56817600-56825200	Weak transcription	Pancreas	Pancrea
45	chr19:56817600-56825200	Weak transcription	Thymus	Thymus
46	chr19:56817600-56825400	Weak transcription	Gastric	stomach
47	chr19:56817600-56825400	Weak transcription	Ovary	ovary
48	chr19:56819000-56825000	Weak transcription	NHDF-Ad	bronchial
49	chr19:56819200-56825200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr19:56819200-56825200	Weak transcription	Fetal Brain Male	brain

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