Variant report

Variant	rs576523684
Chromosome Location	chr19:56149247-56149248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56148879-56149499	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:56146082-56149393	GM12892	blood:	n/a	n/a
3	NFATC1	chr19:56148898-56149293	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:56148727-56151140	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr19:56148785-56149330	GM12891	blood:	n/a	n/a
6	BHLHE40	chr19:56149064-56149259	K562	blood:	n/a	n/a
7	POLR2A	chr19:56146066-56155822	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr19:56148751-56149657	GM12891	blood:	n/a	n/a
9	POLR2A	chr19:56145947-56149686	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr19:56148942-56149557	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr19:56148903-56149265	GM12891	blood:	n/a	n/a
12	POLR2A	chr19:56146995-56149583	K562	blood:	n/a	n/a
13	POLR2A	chr19:56148530-56149394	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:56148834-56149683	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:56148809-56149311	K562	blood:	n/a	n/a
16	POLR2A	chr19:56145999-56149668	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:56148760-56149661	GM12892	blood:	n/a	n/a
18	POLR2A	chr19:56148829-56149304	GM12892	blood:	n/a	n/a
19	POLR2A	chr19:56148857-56149667	GM12892	blood:	n/a	n/a
20	POLR2A	chr19:56149003-56149586	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr19:56148880-56149316	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:56148837-56149514	GM12891	blood:	n/a	n/a
23	POLR2A	chr19:56148777-56149672	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:56135345..56138507-chr19:56147845..56151809,4	K562	blood:
2	chr19:55917719..55921194-chr19:56143842..56149725,7	K562	blood:
3	chr19:56134501..56137412-chr19:56145689..56149345,6	K562	blood:

No data

Variant related genes	Relation type
ZNF581	TF binding region
CCDC106	TF binding region
ZNF580	TF binding region
ENSG00000179922	Chromatin interaction
ENSG00000108106	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
6	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
8	nsv912503	chr19:56149077-56162776	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
9	nsv912504	chr19:56149077-56170415	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56147400-56149800	Enhancers	Gastric	stomach
2	chr19:56147600-56149400	Enhancers	Ovary	ovary
3	chr19:56147600-56149400	Enhancers	Spleen	Spleen
4	chr19:56147600-56149600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:56147600-56150400	Weak transcription	Fetal Brain Female	brain
6	chr19:56147800-56149400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:56147800-56149400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:56147800-56149400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr19:56147800-56149600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:56147800-56149600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:56147800-56150400	Strong transcription	Fetal Intestine Small	intestine
12	chr19:56147800-56151400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:56147800-56151400	Enhancers	Liver	Liver
14	chr19:56147800-56151400	Enhancers	Brain Substantia Nigra	brain
15	chr19:56147800-56151600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:56147800-56151600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:56147800-56151600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:56147800-56151600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:56147800-56151600	Weak transcription	Fetal Heart	heart
20	chr19:56147800-56151600	Enhancers	Pancreas	Pancrea
21	chr19:56147800-56151800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:56147800-56151800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr19:56148000-56149400	Weak transcription	Fetal Intestine Large	intestine
24	chr19:56148000-56149600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr19:56148000-56150400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:56148000-56150400	Weak transcription	Fetal Brain Male	brain
27	chr19:56148000-56150600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:56148000-56150800	Weak transcription	Fetal Kidney	kidney
29	chr19:56148000-56151400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr19:56148200-56149400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:56148200-56149400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr19:56148200-56149400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:56148200-56149400	Enhancers	Brain Angular Gyrus	brain
34	chr19:56148200-56149400	Enhancers	Brain Hippocampus Middle	brain
35	chr19:56148200-56149400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr19:56148200-56149400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:56148200-56149400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr19:56148200-56149800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:56148200-56149800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:56148200-56150000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:56148200-56150000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr19:56148200-56150400	Strong transcription	Fetal Stomach	stomach
43	chr19:56148200-56150400	Weak transcription	NHDF-Ad	bronchial
44	chr19:56148200-56150600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:56148200-56150600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:56148200-56150600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr19:56148200-56151000	Weak transcription	Stomach Mucosa	stomach
48	chr19:56148200-56151200	Weak transcription	Small Intestine	intestine
49	chr19:56148200-56151200	Weak transcription	HUVEC	blood vessel
50	chr19:56148200-56151400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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