Variant report

Variant	rs57457524
Chromosome Location	chr19:56119546-56119547
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55917489..55920268-chr19:56117459..56120602,3	MCF-7	breast:
2	chr19:55917466..55919305-chr19:56117556..56119630,3	K562	blood:
3	chr19:56115235..56119649-chr19:56131831..56136050,11	K562	blood:
4	chr19:56026219..56027740-chr19:56119315..56121024,2	K562	blood:
5	chr19:56116994..56118715-chr19:56119312..56122594,3	MCF-7	breast:
6	chr19:56052247..56053763-chr19:56119545..56121105,2	K562	blood:
7	chr19:56116914..56119642-chr19:56129157..56131500,3	K562	blood:
8	chr19:55963302..55966247-chr19:56117122..56119582,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179922	Chromatin interaction
ENSG00000108106	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56720543	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56920136	0.88[AFR][1000 genomes]
rs57811747	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59260828	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60933383	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61631229	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73610895	1.00[AMR][1000 genomes]
rs73612827	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615013	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615015	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615220	1.00[AMR][1000 genomes]

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	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56117600-56124800	Weak transcription	Small Intestine	intestine
2	chr19:56118000-56120600	Weak transcription	Ovary	ovary
3	chr19:56118000-56121400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
4	chr19:56118200-56119600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:56118200-56119600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:56118200-56119600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
7	chr19:56118200-56119600	Enhancers	Brain Germinal Matrix	brain
8	chr19:56118200-56119600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr19:56118200-56120400	Genic enhancers	Fetal Muscle Leg	muscle
10	chr19:56118200-56120800	Weak transcription	Aorta	Aorta
11	chr19:56118200-56121000	Weak transcription	Fetal Kidney	kidney
12	chr19:56118200-56125600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:56118200-56135000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:56118400-56119600	Genic enhancers	Primary T cells from cord blood	blood
15	chr19:56118400-56119600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr19:56118400-56119600	Enhancers	Colon Smooth Muscle	Colon
17	chr19:56118400-56119600	Enhancers	Fetal Thymus	thymus
18	chr19:56118400-56119600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
19	chr19:56118400-56119600	Enhancers	HepG2	liver
20	chr19:56118400-56119800	Weak transcription	Lung	lung
21	chr19:56118400-56120200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:56118400-56120400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:56118400-56120600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:56118400-56120600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:56118400-56120800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:56118400-56120800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:56118400-56120800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:56118400-56120800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:56118400-56120800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:56118400-56120800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:56118400-56120800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:56118400-56120800	Weak transcription	Colonic Mucosa	Colon
33	chr19:56118400-56120800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:56118400-56120800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr19:56118400-56120800	Weak transcription	HSMM	muscle
36	chr19:56118400-56121000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:56118400-56121600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr19:56118400-56121800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:56118400-56122000	Weak transcription	Psoas Muscle	Psoas
40	chr19:56118400-56122600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr19:56118400-56123000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:56118400-56123000	Weak transcription	NHLF	lung
43	chr19:56118400-56125200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:56118400-56125400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr19:56118400-56125600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr19:56118400-56125600	Weak transcription	Esophagus	oesophagus
47	chr19:56118400-56126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr19:56118400-56126000	Weak transcription	Brain Substantia Nigra	brain
49	chr19:56118400-56126800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:56118400-56127000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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