Variant report

Variant	rs2927438
Chromosome Location	chr19:45242107-45242108
allele	A/G
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	chr19:45236994..45239272-chr19:45241247..45244743,3	K562	blood:
2	chr19:45226867..45228594-chr19:45240913..45242442,2	MCF-7	breast:
3	chr19:45240956..45243677-chr19:45255816..45257641,2	K562	blood:
4	chr19:45240786..45243708-chr19:45250602..45253162,2	K562	blood:
5	chr19:45149710..45152694-chr19:45240654..45242344,2	MCF-7	breast:
6	chr19:45233845..45235491-chr19:45239914..45242693,2	K562	blood:
7	chr19:45238713..45247485-chr19:45247961..45259019,19	K562	blood:
8	chr19:45227328..45229079-chr19:45239485..45242228,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000069399	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2927437	0.81[EUR][1000 genomes]
rs8103315	0.81[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

Variant related diseases (count:1)

Disease	PMID	Source
Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)	24121790	GWAS catalog

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45235400-45250400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:45238600-45244600	Weak transcription	Small Intestine	intestine
3	chr19:45238800-45244600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:45239200-45242200	Enhancers	Osteobl	bone
5	chr19:45239400-45243000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:45239600-45242600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:45239600-45242800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr19:45239600-45242800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:45239800-45242600	Enhancers	Primary B cells from cord blood	blood
10	chr19:45239800-45242800	Flanking Active TSS	A549	lung
11	chr19:45239800-45243000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:45239800-45245200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr19:45239800-45246800	Enhancers	Primary hematopoietic stem cells	blood
14	chr19:45240200-45243000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:45240200-45243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:45240400-45242200	Weak transcription	HMEC	breast
17	chr19:45240400-45242800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:45240400-45245400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr19:45240600-45242600	Enhancers	K562	blood
20	chr19:45240600-45242800	Enhancers	Esophagus	oesophagus
21	chr19:45240600-45243600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr19:45240600-45243800	Enhancers	Lung	lung
23	chr19:45240800-45242200	Weak transcription	Adipose Nuclei	Adipose
24	chr19:45240800-45242600	Enhancers	Duodenum Mucosa	Duodenum
25	chr19:45240800-45242800	Flanking Active TSS	Liver	Liver
26	chr19:45240800-45243800	Enhancers	Spleen	Spleen
27	chr19:45240800-45247600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:45241000-45242200	Weak transcription	HSMMtube	muscle
29	chr19:45241000-45242200	Weak transcription	NHDF-Ad	bronchial
30	chr19:45241000-45242400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:45241200-45242200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr19:45241200-45242400	Weak transcription	NHEK	skin
33	chr19:45241200-45242600	Enhancers	Left Ventricle	heart
34	chr19:45241200-45242800	Enhancers	Placenta	Placenta
35	chr19:45241200-45243000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr19:45241200-45243000	Enhancers	Stomach Mucosa	stomach
37	chr19:45241200-45243600	Weak transcription	Right Atrium	heart
38	chr19:45241200-45244800	Weak transcription	HSMM	muscle
39	chr19:45241200-45245200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:45241200-45245200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:45241400-45242600	Enhancers	Pancreas	Pancrea
42	chr19:45241400-45243000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:45241400-45244600	Weak transcription	NH-A	brain
44	chr19:45241400-45245400	Weak transcription	Brain Anterior Caudate	brain
45	chr19:45241400-45245800	Weak transcription	Ovary	ovary
46	chr19:45241600-45242800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr19:45241600-45243000	Enhancers	Fetal Intestine Large	intestine
48	chr19:45241600-45245400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr19:45241800-45242200	Flanking Active TSS	GM12878-XiMat	blood
50	chr19:45241800-45242400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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