Variant report

Variant	rs56840999
Chromosome Location	chr4:48226153-48226154
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48222896..48226335-chr4:48226766..48230334,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs60145199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60658182	0.97[ASN][1000 genomes]
rs73246006	0.97[ASN][1000 genomes]
rs73814695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48207400-48227800	Weak transcription	Esophagus	oesophagus
2	chr4:48214800-48231200	Weak transcription	Liver	Liver
3	chr4:48215000-48228200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:48215600-48232400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:48219600-48227800	Weak transcription	Lung	lung
6	chr4:48220400-48242200	Weak transcription	Aorta	Aorta
7	chr4:48221400-48230400	Weak transcription	Pancreas	Pancrea
8	chr4:48222000-48229800	Weak transcription	Thymus	Thymus
9	chr4:48222000-48235000	Weak transcription	Fetal Thymus	thymus
10	chr4:48223200-48231400	Weak transcription	Fetal Intestine Small	intestine
11	chr4:48223400-48227800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:48224400-48227400	Weak transcription	Primary B cells from cord blood	blood
13	chr4:48224600-48229600	Weak transcription	K562	blood
14	chr4:48224600-48230600	Weak transcription	Adipose Nuclei	Adipose
15	chr4:48224600-48231200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr4:48224800-48227000	Strong transcription	GM12878-XiMat	blood
17	chr4:48224800-48227600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:48225200-48227800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:48225600-48226200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:48225600-48226200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:48225600-48226200	Enhancers	NHDF-Ad	bronchial
22	chr4:48225600-48226400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:48225600-48226400	Enhancers	Osteobl	bone
24	chr4:48225600-48226600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:48225600-48226600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:48225600-48226600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:48225600-48226800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:48225600-48226800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:48225600-48226800	Enhancers	HMEC	breast
30	chr4:48225600-48226800	Enhancers	NHEK	skin
31	chr4:48225800-48226200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:48225800-48226200	Enhancers	A549	lung
33	chr4:48225800-48231400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr4:48226000-48227200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:48226000-48229600	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links