Variant report

Variant	rs34450526
Chromosome Location	chr19:56906085-56906086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:56878056..56881655-chr19:56903333..56906269,5	K562	blood:
2	chr19:56630391..56632820-chr19:56902199..56906311,3	K562	blood:
3	chr19:56896992..56902951-chr19:56903012..56907037,12	K562	blood:
4	chr19:56902006..56908060-chr19:56909612..56917978,15	K562	blood:
5	chr19:56878151..56881655-chr19:56903333..56906269,7	K562	blood:
6	chr19:56825335..56828118-chr19:56903219..56906332,4	K562	blood:
7	chr19:56902257..56906485-chr19:56913118..56917978,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF583-1	chr19:56905586-56906173	XLOC_013167

No data

Variant related genes	Relation type
ENSG00000267781	Chromatin interaction
ENSG00000267606	Chromatin interaction
ENSG00000200646	Chromatin interaction
ENSG00000198440	Chromatin interaction
ENSG00000142409	Chromatin interaction
ENSG00000131848	Chromatin interaction
ENSG00000240225	Chromatin interaction
ENSG00000267192	Chromatin interaction
ENSG00000267549	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11878390	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972251	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12980022	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35421936	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36090893	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][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	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
7	nsv544096	chr19:56905651-56933455	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56900000-56906800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:56903600-56906200	Active TSS	Stomach Smooth Muscle	stomach
3	chr19:56903600-56907000	ZNF genes & repeats	A549	lung
4	chr19:56904400-56906200	Active TSS	Brain Angular Gyrus	brain
5	chr19:56905000-56913600	ZNF genes & repeats	Liver	Liver
6	chr19:56905200-56906200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr19:56905200-56906200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
8	chr19:56905200-56907000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:56905200-56907000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr19:56905400-56906400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:56905400-56909000	Weak transcription	Spleen	Spleen
12	chr19:56905400-56909200	Weak transcription	Ovary	ovary
13	chr19:56905400-56909400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:56905400-56910800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:56905400-56911000	Weak transcription	Stomach Mucosa	stomach
16	chr19:56905600-56906400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
17	chr19:56905600-56906600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr19:56905600-56906600	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr19:56905600-56906800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:56905600-56908400	Weak transcription	Primary T cells from cord blood	blood
21	chr19:56905600-56908400	Weak transcription	HSMMtube	muscle
22	chr19:56905600-56908800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:56905600-56909200	Weak transcription	Aorta	Aorta
24	chr19:56905600-56909400	Weak transcription	Brain Germinal Matrix	brain
25	chr19:56905600-56909400	Weak transcription	Brain Substantia Nigra	brain
26	chr19:56905600-56909400	Weak transcription	Fetal Brain Female	brain
27	chr19:56905600-56910000	Weak transcription	Fetal Brain Male	brain
28	chr19:56905600-56910200	Weak transcription	Fetal Kidney	kidney
29	chr19:56905600-56914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr19:56905800-56906200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr19:56905800-56906400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:56905800-56906400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:56905800-56907400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:56905800-56908600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:56905800-56908800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:56905800-56908800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:56905800-56908800	Weak transcription	Brain Hippocampus Middle	brain
38	chr19:56905800-56909000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr19:56905800-56909000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr19:56905800-56909000	Weak transcription	Fetal Muscle Leg	muscle
41	chr19:56905800-56909000	Weak transcription	Fetal Stomach	stomach
42	chr19:56905800-56909000	Weak transcription	Left Ventricle	heart
43	chr19:56905800-56909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:56905800-56909200	Weak transcription	Colon Smooth Muscle	Colon
45	chr19:56905800-56909200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:56905800-56909200	Weak transcription	Fetal Lung	lung
47	chr19:56905800-56910000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr19:56905800-56914400	Weak transcription	Fetal Heart	heart
49	chr19:56906000-56906200	Active TSS	Brain Anterior Caudate	brain
50	chr19:56906000-56906200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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