Variant report

Variant	rs537728
Chromosome Location	chr19:56170771-56170772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56170617-56170905	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:56170719-56171083	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:54974496..54976652-chr19:56167995..56170937,2	MCF-7	breast:
2	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
3	chr19:56168627..56170843-chr19:56657131..56658872,2	MCF-7	breast:
4	chr19:56110428..56112493-chr19:56168408..56170811,2	MCF-7	breast:
5	chr19:54962486..54964755-chr19:56168867..56170948,2	MCF-7	breast:

No data

Variant related genes	Relation type
U2AF2	TF binding region
ENSG00000167615	Chromatin interaction
ENSG00000063245	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000182909	Chromatin interaction
ENSG00000167685	Chromatin interaction
ENSG00000179943	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11545669	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310444	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504003	1.00[CEU][hapmap]
rs507498	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57063593	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581023	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600106	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630491	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs637788	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679577	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680444	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681433	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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	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
5	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
6	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
7	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56167600-56174200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:56167800-56171400	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr19:56167800-56171400	Genic enhancers	Fetal Muscle Trunk	muscle
4	chr19:56168200-56170800	Genic enhancers	Placenta Amnion	Placenta Amnion
5	chr19:56168200-56171400	Genic enhancers	Placenta	Placenta
6	chr19:56168200-56171800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:56168200-56172400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:56168200-56172800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:56168600-56170800	Enhancers	Fetal Heart	heart
10	chr19:56168600-56171200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:56168600-56172200	Genic enhancers	Spleen	Spleen
12	chr19:56168800-56170800	Enhancers	Ovary	ovary
13	chr19:56168800-56171000	Enhancers	Brain Substantia Nigra	brain
14	chr19:56169000-56170800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:56169000-56170800	Enhancers	Colon Smooth Muscle	Colon
16	chr19:56169000-56170800	Enhancers	Right Atrium	heart
17	chr19:56169000-56171000	Genic enhancers	Brain Germinal Matrix	brain
18	chr19:56169000-56171000	Genic enhancers	Left Ventricle	heart
19	chr19:56169000-56171400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:56169000-56171400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr19:56169000-56171400	Weak transcription	Small Intestine	intestine
22	chr19:56169200-56170800	Genic enhancers	Right Ventricle	heart
23	chr19:56169200-56171000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:56169200-56171000	Genic enhancers	NHLF	lung
25	chr19:56169200-56171400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:56169200-56171400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:56169200-56172200	Genic enhancers	Lung	lung
28	chr19:56169200-56173200	Weak transcription	Fetal Kidney	kidney
29	chr19:56169200-56173600	Genic enhancers	A549	lung
30	chr19:56169400-56170800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr19:56169400-56170800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr19:56169400-56170800	Genic enhancers	Fetal Intestine Large	intestine
33	chr19:56169400-56171000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr19:56169400-56171000	Genic enhancers	Duodenum Mucosa	Duodenum
35	chr19:56169400-56171400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:56169400-56171800	Genic enhancers	Pancreas	Pancrea
37	chr19:56169400-56172600	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr19:56169400-56172600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:56169600-56170800	Enhancers	Brain Hippocampus Middle	brain
40	chr19:56169600-56170800	Enhancers	Psoas Muscle	Psoas
41	chr19:56169600-56170800	Genic enhancers	Rectal Mucosa Donor 29	rectum
42	chr19:56169600-56171200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:56169600-56171200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:56169600-56171200	Enhancers	Fetal Brain Male	brain
45	chr19:56169600-56171400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:56169600-56172000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr19:56169600-56172200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr19:56169600-56173200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:56169600-56173200	Weak transcription	HSMMtube	muscle
50	chr19:56169600-56181600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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