Variant report

Variant	rs17728272
Chromosome Location	chr19:45240371-45240372
allele	C/T
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	chr19:45233845..45235491-chr19:45239914..45242693,2	K562	blood:
3	chr19:45233691..45235616-chr19:45239069..45240696,2	MCF-7	breast:
4	chr19:45238713..45247485-chr19:45247961..45259019,19	K562	blood:
5	chr19:45227328..45229079-chr19:45239485..45242228,2	K562	blood:

Variant related genes	Relation type
ENSG00000069399	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17658713	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2927488	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2965102	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2965103	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2965104	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2965105	0.96[EUR][1000 genomes]
rs4803749	0.85[EUR][1000 genomes]
rs56702353	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56978169	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59170622	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7257231	0.82[EUR][1000 genomes]
rs8100239	0.82[CEU][hapmap]

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:58 , 50 per page) page: 1 2

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	chr19:45232400-45240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:45235000-45242000	Weak transcription	Colonic Mucosa	Colon
6	chr19:45235400-45241800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr19:45235400-45250400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr19:45236000-45240600	Weak transcription	Fetal Muscle Leg	muscle
9	chr19:45236600-45240800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:45238000-45240800	Enhancers	Liver	Liver
11	chr19:45238400-45241000	Enhancers	GM12878-XiMat	blood
12	chr19:45238600-45240400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:45238600-45240600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:45238600-45240600	Weak transcription	Esophagus	oesophagus
15	chr19:45238600-45240600	Weak transcription	Pancreas	Pancrea
16	chr19:45238600-45240600	Weak transcription	HSMM	muscle
17	chr19:45238600-45240600	Weak transcription	K562	blood
18	chr19:45238600-45240600	Weak transcription	NHDF-Ad	bronchial
19	chr19:45238600-45240800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr19:45238600-45241000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:45238600-45241600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:45238600-45242000	Weak transcription	Gastric	stomach
23	chr19:45238600-45242000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr19:45238600-45242000	Weak transcription	NHLF	lung
25	chr19:45238600-45244600	Weak transcription	Small Intestine	intestine
26	chr19:45238800-45241600	Weak transcription	Fetal Intestine Large	intestine
27	chr19:45238800-45241800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr19:45238800-45244600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr19:45239200-45240400	Weak transcription	Hela-S3	cervix
30	chr19:45239200-45242200	Enhancers	Osteobl	bone
31	chr19:45239400-45243000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:45239600-45240400	Enhancers	HepG2	liver
33	chr19:45239600-45242000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:45239600-45242600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:45239600-45242800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr19:45239600-45242800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:45239800-45240400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr19:45239800-45240400	Enhancers	HMEC	breast
39	chr19:45239800-45240600	Enhancers	Primary B cells from peripheral blood	blood
40	chr19:45239800-45241000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr19:45239800-45241200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:45239800-45241200	Enhancers	NHEK	skin
43	chr19:45239800-45242600	Enhancers	Primary B cells from cord blood	blood
44	chr19:45239800-45242800	Flanking Active TSS	A549	lung
45	chr19:45239800-45243000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:45239800-45245200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr19:45239800-45246800	Enhancers	Primary hematopoietic stem cells	blood
48	chr19:45240000-45241000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:45240000-45241000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:45240000-45241200	Enhancers	Muscle Satellite Cultured Cells	--

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