Variant report

Variant	rs56702353
Chromosome Location	chr19:45239568-45239569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45237572..45239935-chr19:45240131..45241876,2	MCF-7	breast:
2	chr19:45233691..45235616-chr19:45239069..45240696,2	MCF-7	breast:
3	chr19:45238713..45247485-chr19:45247961..45259019,19	K562	blood:
4	chr19:45227328..45229079-chr19:45239485..45242228,2	K562	blood:

Variant related genes	Relation type
ENSG00000069399	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17658713	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17728272	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2927488	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2965102	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2965103	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2965104	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2965105	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4803749	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56978169	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59170622	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	esv3335183	chr19:45225161-45253316	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45229000-45240800	Weak transcription	Right Atrium	heart
2	chr19:45229200-45240800	Weak transcription	Spleen	Spleen
3	chr19:45231400-45240600	Weak transcription	Lung	lung
4	chr19:45232000-45239600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:45232000-45239800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:45232400-45240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:45235000-45242000	Weak transcription	Colonic Mucosa	Colon
8	chr19:45235400-45241800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr19:45235400-45250400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr19:45235800-45239800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr19:45236000-45240600	Weak transcription	Fetal Muscle Leg	muscle
12	chr19:45236200-45239800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:45236600-45240800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:45238000-45240800	Enhancers	Liver	Liver
15	chr19:45238400-45241000	Enhancers	GM12878-XiMat	blood
16	chr19:45238600-45239600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:45238600-45239600	Weak transcription	HepG2	liver
18	chr19:45238600-45239800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:45238600-45239800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr19:45238600-45239800	Enhancers	A549	lung
21	chr19:45238600-45240000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:45238600-45240000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:45238600-45240000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:45238600-45240200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:45238600-45240200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr19:45238600-45240200	Weak transcription	NH-A	brain
27	chr19:45238600-45240400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:45238600-45240600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr19:45238600-45240600	Weak transcription	Esophagus	oesophagus
30	chr19:45238600-45240600	Weak transcription	Pancreas	Pancrea
31	chr19:45238600-45240600	Weak transcription	HSMM	muscle
32	chr19:45238600-45240600	Weak transcription	K562	blood
33	chr19:45238600-45240600	Weak transcription	NHDF-Ad	bronchial
34	chr19:45238600-45240800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:45238600-45241000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:45238600-45241600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr19:45238600-45242000	Weak transcription	Gastric	stomach
38	chr19:45238600-45242000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:45238600-45242000	Weak transcription	NHLF	lung
40	chr19:45238600-45244600	Weak transcription	Small Intestine	intestine
41	chr19:45238800-45239800	Weak transcription	Stomach Mucosa	stomach
42	chr19:45238800-45239800	Weak transcription	HMEC	breast
43	chr19:45238800-45239800	Weak transcription	NHEK	skin
44	chr19:45238800-45241600	Weak transcription	Fetal Intestine Large	intestine
45	chr19:45238800-45241800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr19:45238800-45244600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr19:45239200-45240400	Weak transcription	Hela-S3	cervix
48	chr19:45239200-45242200	Enhancers	Osteobl	bone
49	chr19:45239400-45243000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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