Variant report

Variant	rs117159572
Chromosome Location	chr19:38345980-38345981
allele	C/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	MAX	chr19:38345845-38346249	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr19:38345914-38346145	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr19:38345705-38346263	SK-N-SH	brain:	n/a	n/a
4	MAZ	chr19:38345628-38346199	IMR90	lung:	n/a	n/a
5	E2F6	chr19:38345767-38346290	H1-hESC	embryonic stem cell:	n/a	chr19:38345911-38345920 chr19:38345866-38345876 chr19:38345936-38345950
6	MAX	chr19:38345719-38346268	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr19:38345860-38346010	HRPEpiC	eye:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF573-1	chr19:38345690-38346073	NONHSAT066176

Variant related genes	Relation type
ENSG00000225868	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1062040	chr19:38294465-38370456	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3434717	chr19:38326161-38347208	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3511498	chr19:38339912-38346710	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3511499	chr19:38340462-38346460	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3511500	chr19:38340462-38346460	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3318771	chr19:38341612-38346710	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3318772	chr19:38341612-38346710	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1832898	chr19:38341754-38362792	Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv1825275	chr19:38341754-38376485	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3489355	chr19:38342312-38346110	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3489356	chr19:38342312-38346110	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38345200-38347200	ZNF genes & repeats	Esophagus	oesophagus
2	chr19:38345400-38346200	Active TSS	Fetal Brain Female	brain
3	chr19:38345400-38347200	ZNF genes & repeats	Placenta	Placenta
4	chr19:38345400-38347600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:38345600-38346000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
6	chr19:38345600-38346000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:38345600-38346000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:38345600-38346000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
9	chr19:38345600-38346000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr19:38345600-38346000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
11	chr19:38345600-38346000	Flanking Active TSS	Right Ventricle	heart
12	chr19:38345600-38346200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:38345600-38346200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:38345600-38346200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr19:38345600-38346200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:38345600-38346200	Active TSS	Brain Angular Gyrus	brain
17	chr19:38345600-38346200	Active TSS	Brain Anterior Caudate	brain
18	chr19:38345600-38346200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
19	chr19:38345600-38346200	Active TSS	Brain Substantia Nigra	brain
20	chr19:38345600-38346200	Enhancers	Fetal Heart	heart
21	chr19:38345600-38346200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr19:38345600-38346200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr19:38345600-38346400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:38345600-38346400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr19:38345600-38346400	ZNF genes & repeats	Lung	lung
26	chr19:38345600-38346600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:38345600-38346600	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr19:38345600-38347000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
29	chr19:38345600-38347000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr19:38345600-38347000	ZNF genes & repeats	Spleen	Spleen
31	chr19:38345600-38347200	ZNF genes & repeats	Pancreas	Pancrea
32	chr19:38345600-38347200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr19:38345600-38347400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:38345600-38347400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:38345800-38346000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:38345800-38346000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
37	chr19:38345800-38346000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr19:38345800-38346000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:38345800-38346000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr19:38345800-38346000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
41	chr19:38345800-38346000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
42	chr19:38345800-38346000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
43	chr19:38345800-38346000	Bivalent Enhancer	Fetal Stomach	stomach
44	chr19:38345800-38346000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
45	chr19:38345800-38346000	Bivalent/Poised TSS	Psoas Muscle	Psoas
46	chr19:38345800-38346800	Enhancers	Fetal Brain Male	brain
47	chr19:38345800-38346800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr19:38345800-38347200	ZNF genes & repeats	Adipose Nuclei	Adipose

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