Variant report

Variant	rs2927437
Chromosome Location	chr19:45241638-45241639
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr19:45237572..45239935-chr19:45240131..45241876,2	MCF-7	breast:
5	chr19:45240786..45243708-chr19:45250602..45253162,2	K562	blood:
6	chr19:45149710..45152694-chr19:45240654..45242344,2	MCF-7	breast:
7	chr19:45233845..45235491-chr19:45239914..45242693,2	K562	blood:
8	chr19:45238713..45247485-chr19:45247961..45259019,19	K562	blood:
9	chr19:45227328..45229079-chr19:45239485..45242228,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000069399	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2927434	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2927438	0.81[EUR][1000 genomes]
rs8104548	0.97[AMR][1000 genomes];0.82[EUR][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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45235000-45242000	Weak transcription	Colonic Mucosa	Colon
2	chr19:45235400-45241800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr19:45235400-45250400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr19:45238600-45242000	Weak transcription	Gastric	stomach
5	chr19:45238600-45242000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:45238600-45242000	Weak transcription	NHLF	lung
7	chr19:45238600-45244600	Weak transcription	Small Intestine	intestine
8	chr19:45238800-45241800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr19:45238800-45244600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:45239200-45242200	Enhancers	Osteobl	bone
11	chr19:45239400-45243000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:45239600-45242000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:45239600-45242600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:45239600-45242800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr19:45239600-45242800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:45239800-45242600	Enhancers	Primary B cells from cord blood	blood
17	chr19:45239800-45242800	Flanking Active TSS	A549	lung
18	chr19:45239800-45243000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:45239800-45245200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr19:45239800-45246800	Enhancers	Primary hematopoietic stem cells	blood
21	chr19:45240200-45242000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr19:45240200-45243000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:45240200-45243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:45240400-45242000	Enhancers	Hela-S3	cervix
25	chr19:45240400-45242200	Weak transcription	HMEC	breast
26	chr19:45240400-45242800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:45240400-45245400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr19:45240600-45242600	Enhancers	K562	blood
29	chr19:45240600-45242800	Enhancers	Esophagus	oesophagus
30	chr19:45240600-45243600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr19:45240600-45243800	Enhancers	Lung	lung
32	chr19:45240800-45242200	Weak transcription	Adipose Nuclei	Adipose
33	chr19:45240800-45242600	Enhancers	Duodenum Mucosa	Duodenum
34	chr19:45240800-45242800	Flanking Active TSS	Liver	Liver
35	chr19:45240800-45243800	Enhancers	Spleen	Spleen
36	chr19:45240800-45247600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:45241000-45242000	Weak transcription	Fetal Thymus	thymus
38	chr19:45241000-45242000	Enhancers	HepG2	liver
39	chr19:45241000-45242200	Weak transcription	HSMMtube	muscle
40	chr19:45241000-45242200	Weak transcription	NHDF-Ad	bronchial
41	chr19:45241000-45242400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:45241200-45241800	Weak transcription	Right Ventricle	heart
43	chr19:45241200-45242200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr19:45241200-45242400	Weak transcription	NHEK	skin
45	chr19:45241200-45242600	Enhancers	Left Ventricle	heart
46	chr19:45241200-45242800	Enhancers	Placenta	Placenta
47	chr19:45241200-45243000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr19:45241200-45243000	Enhancers	Stomach Mucosa	stomach
49	chr19:45241200-45243600	Weak transcription	Right Atrium	heart
50	chr19:45241200-45244800	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links