Variant report

Variant	rs4803750
Chromosome Location	chr19:45247627-45247628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:45247615-45249193	A549	lung:	n/a	chr19:45248651-45248661

No.	Distal block	Cell Line	Cell type
1	chr19:45244086..45247886-chr19:45254876..45256709,3	K562	blood:
2	chr19:45227347..45229594-chr19:45246580..45248403,3	MCF-7	breast:
3	chr19:45074025..45075864-chr19:45246101..45248322,2	MCF-7	breast:
4	chr19:45246449..45248684-chr19:45349808..45352021,2	MCF-7	breast:

Variant related genes	Relation type
BCL3	TF binding region
ENSG00000252200	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10401176	0.80[CEU][hapmap]
rs1531517	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs62117204	0.92[EUR][1000 genomes]
rs62117205	0.97[EUR][1000 genomes]
rs62117206	0.97[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

Variant related diseases (count:1)

Disease	PMID	Source
Lipid metabolism phenotypes	19936222	GWAS catalog

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45235400-45250400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:45242000-45248200	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr19:45242800-45250200	Enhancers	Liver	Liver
4	chr19:45243400-45248400	Enhancers	Colonic Mucosa	Colon
5	chr19:45243400-45250000	Enhancers	Fetal Intestine Small	intestine
6	chr19:45243400-45250200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:45243400-45250400	Enhancers	Fetal Intestine Large	intestine
8	chr19:45243600-45248200	Enhancers	Adipose Nuclei	Adipose
9	chr19:45243600-45248400	Enhancers	Duodenum Mucosa	Duodenum
10	chr19:45243600-45249200	Enhancers	Pancreas	Pancrea
11	chr19:45243600-45250200	Enhancers	Fetal Muscle Trunk	muscle
12	chr19:45243800-45252000	Weak transcription	Gastric	stomach
13	chr19:45244000-45249000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr19:45244000-45249800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:45244200-45250200	Enhancers	Primary B cells from cord blood	blood
16	chr19:45244600-45249200	Enhancers	Left Ventricle	heart
17	chr19:45244600-45249600	Enhancers	Placenta	Placenta
18	chr19:45245400-45250400	Enhancers	Lung	lung
19	chr19:45245600-45248000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:45245600-45248400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:45245600-45249800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr19:45245600-45250000	Weak transcription	GM12878-XiMat	blood
23	chr19:45245600-45250200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr19:45246000-45248600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:45246200-45248200	Weak transcription	Ovary	ovary
26	chr19:45246200-45248200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr19:45246200-45248600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:45246200-45248600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr19:45246200-45249800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr19:45246200-45249800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:45246200-45250000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:45246200-45250000	Weak transcription	Fetal Heart	heart
33	chr19:45246200-45250200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:45246400-45247800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr19:45246400-45247800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:45246400-45248000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:45246400-45248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:45246400-45248000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr19:45246400-45248000	Weak transcription	K562	blood
40	chr19:45246400-45248000	Weak transcription	NHEK	skin
41	chr19:45246400-45248200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:45246400-45248200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:45246400-45248200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:45246400-45248200	Weak transcription	Esophagus	oesophagus
45	chr19:45246400-45248200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr19:45246400-45248200	Enhancers	HepG2	liver
47	chr19:45246400-45248200	Weak transcription	HSMM	muscle
48	chr19:45246400-45248200	Weak transcription	HSMMtube	muscle
49	chr19:45246400-45248200	Weak transcription	NH-A	brain
50	chr19:45246400-45248400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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