Variant report

Variant	rs57757608
Chromosome Location	chr19:18205658-18205659
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr19:18205455-18205842	HepG2	liver:	n/a	chr19:18205647-18205660
2	CTCF	chr19:18205600-18205750	HepG2	liver:	n/a	n/a
3	CTCF	chr19:18205580-18205730	Hela-S3	cervix:	n/a	n/a
4	ELF1	chr19:18205445-18205801	K562	blood:	n/a	chr19:18205647-18205660
5	CTCF	chr19:18205600-18205750	BJ	skin:	n/a	n/a
6	CTCF	chr19:18205642-18205749	K562	blood:	n/a	n/a
7	ELF1	chr19:18205508-18205729	HepG2	liver:	n/a	chr19:18205647-18205660
8	CTCF	chr19:18205580-18205730	HCFaa	heart:	n/a	n/a
9	CTCF	chr19:18205600-18205750	HCT-116	colon:	n/a	n/a
10	CTCF	chr19:18205580-18205730	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr19:18205595-18205917	K562	blood:	n/a	n/a
12	RAD21	chr19:18205520-18205828	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr19:18205621-18205800	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:18203748..18205782-chr19:18209199..18211181,2	MCF-7	breast:
2	chr19:18204846..18207137-chr19:18211896..18213931,2	MCF-7	breast:
3	chr19:18202188..18206324-chr19:18207877..18210994,4	K562	blood:
4	chr19:18168077..18170768-chr19:18203861..18205779,2	K562	blood:
5	chr19:18199408..18201651-chr19:18204862..18207301,2	MCF-7	breast:

No data

Variant related genes	Relation type
MAST3	TF binding region
ENSG00000096996	Chromatin interaction
ENSG00000099308	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10451485	1.00[EUR][1000 genomes]
rs11555958	1.00[EUR][1000 genomes]
rs11880673	1.00[EUR][1000 genomes]
rs11881620	1.00[EUR][1000 genomes]
rs17882031	1.00[EUR][1000 genomes]
rs431777	1.00[EUR][1000 genomes]
rs437698	1.00[EUR][1000 genomes]
rs58749284	1.00[EUR][1000 genomes]
rs6512246	1.00[EUR][1000 genomes]
rs7253479	1.00[EUR][1000 genomes]
rs7255121	1.00[EUR][1000 genomes]
rs7256004	1.00[EUR][1000 genomes]
rs8102661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8103073	1.00[EUR][1000 genomes]
rs8103555	1.00[EUR][1000 genomes]
rs8107327	1.00[EUR][1000 genomes]
rs8111135	1.00[EUR][1000 genomes]
rs845379	1.00[EUR][1000 genomes]
rs9749302	1.00[EUR][1000 genomes]
rs9989677	1.00[EUR][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	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv911241	chr19:18193191-18304700	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv911242	chr19:18201757-18304700	Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18201000-18208200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr19:18201000-18208400	Weak transcription	Hela-S3	cervix
3	chr19:18201600-18208600	Weak transcription	Aorta	Aorta
4	chr19:18201800-18208600	Weak transcription	Colonic Mucosa	Colon
5	chr19:18202000-18208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:18202000-18208600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:18202200-18208600	Weak transcription	Spleen	Spleen
8	chr19:18202400-18208200	Weak transcription	Brain Substantia Nigra	brain
9	chr19:18202400-18208600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:18202600-18208600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:18203000-18208000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:18203000-18208600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:18203200-18207800	Weak transcription	GM12878-XiMat	blood
14	chr19:18203200-18208000	Weak transcription	Primary B cells from cord blood	blood
15	chr19:18203600-18208000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:18203800-18206200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:18203800-18208200	Weak transcription	Primary T cells from cord blood	blood
18	chr19:18203800-18208600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:18203800-18208600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:18204400-18208000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:18204400-18208000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr19:18204400-18208400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:18204600-18208000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr19:18204600-18208000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr19:18204600-18208000	Weak transcription	Placenta	Placenta
26	chr19:18204600-18208000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr19:18204600-18208200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:18204600-18208200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr19:18204600-18208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr19:18204600-18208200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr19:18204600-18208200	Weak transcription	Brain Hippocampus Middle	brain
32	chr19:18204600-18208600	Weak transcription	Lung	lung
33	chr19:18204600-18208600	Weak transcription	NHDF-Ad	bronchial
34	chr19:18204800-18207600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr19:18204800-18207800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr19:18204800-18207800	Weak transcription	Fetal Thymus	thymus
37	chr19:18204800-18208000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr19:18204800-18208200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:18204800-18208200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:18204800-18208200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:18204800-18208200	Weak transcription	A549	lung
42	chr19:18204800-18208200	Weak transcription	HepG2	liver
43	chr19:18204800-18208200	Weak transcription	K562	blood
44	chr19:18204800-18208600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:18204800-18208600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:18204800-18208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:18204800-18208600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:18204800-18208600	Weak transcription	HMEC	breast
49	chr19:18204800-18208600	Weak transcription	NHEK	skin
50	chr19:18204800-18208800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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