Variant report

Variant	rs149958391
Chromosome Location	chr19:56914738-56914739
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56914732-56916168	GM12891	blood:	n/a	n/a
2	NRF1	chr19:56914508-56916045	SK-N-SH	brain:	n/a	chr19:56915448-56915457 chr19:56915385-56915396 chr19:56915446-56915457 chr19:56915446-56915460 chr19:56915446-56915457 chr19:56915443-56915457 chr19:56915382-56915396
3	RELA	chr19:56914678-56915716	GM19099	blood:	n/a	n/a
4	RELA	chr19:56914619-56916125	GM12891	blood:	n/a	n/a
5	BATF	chr19:56914712-56915009	GM12878	blood:	n/a	n/a
6	REST	chr19:56914735-56916580	H1-neurons	neurons:	n/a	chr19:56915759-56915772 chr19:56915847-56915857
7	MXI1	chr19:56914376-56916686	SK-N-SH	brain:	n/a	chr19:56916261-56916270

No.	Distal block	Cell Line	Cell type
1	chr19:56902006..56908060-chr19:56909612..56917978,15	K562	blood:
2	chr19:56824960..56826803-chr19:56913604..56915630,2	K562	blood:
3	chr19:56902257..56906485-chr19:56913118..56917978,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF582-1	chr19:56914145-56915302	NONHSAT068149

Variant related genes	Relation type
ZNF583	TF binding region
ENSG00000267454	Chromatin interaction
ENSG00000267549	Chromatin interaction
ENSG00000131848	Chromatin interaction
ENSG00000266631	Chromatin interaction
ENSG00000018869	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3373403	chr19:56913940-56918638	Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr19:56908000-56914800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:56911000-56914800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:56911000-56915000	Weak transcription	Aorta	Aorta
4	chr19:56914000-56914800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr19:56914200-56915000	Flanking Active TSS	Dnd41	blood
6	chr19:56914200-56915200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:56914200-56915200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:56914200-56916000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:56914200-56916000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr19:56914200-56916000	Active TSS	HSMMtube	muscle
11	chr19:56914200-56916000	Active TSS	NHDF-Ad	bronchial
12	chr19:56914200-56916200	Active TSS	Muscle Satellite Cultured Cells	--
13	chr19:56914400-56914800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr19:56914400-56914800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:56914400-56914800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:56914400-56914800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr19:56914400-56914800	Enhancers	Primary B cells from peripheral blood	blood
18	chr19:56914400-56914800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr19:56914400-56914800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr19:56914400-56914800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:56914400-56914800	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr19:56914400-56914800	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr19:56914400-56914800	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr19:56914400-56914800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr19:56914400-56914800	Flanking Active TSS	Fetal Lung	lung
26	chr19:56914400-56914800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr19:56914400-56914800	ZNF genes & repeats	GM12878-XiMat	blood
28	chr19:56914400-56915000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:56914400-56915000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr19:56914400-56915000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr19:56914400-56915000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr19:56914400-56915000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:56914400-56915000	Flanking Active TSS	Liver	Liver
34	chr19:56914400-56915000	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr19:56914400-56915000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr19:56914400-56915000	Enhancers	Small Intestine	intestine
37	chr19:56914400-56915200	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr19:56914400-56915200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:56914400-56915200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr19:56914400-56915800	Active TSS	Stomach Smooth Muscle	stomach
41	chr19:56914400-56915800	Active TSS	HSMM	muscle
42	chr19:56914400-56915800	Active TSS	Osteobl	bone
43	chr19:56914400-56916000	Active TSS	H1 Cell Line	embryonic stem cell
44	chr19:56914400-56916000	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr19:56914400-56916000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:56914400-56916000	Active TSS	Brain Cingulate Gyrus	brain
47	chr19:56914400-56916000	Active TSS	Fetal Brain Female	brain
48	chr19:56914400-56916000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr19:56914400-56916000	Active TSS	NHLF	lung
50	chr19:56914400-56916200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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