Variant report

Variant	rs56226148
Chromosome Location	chr3:143025488-143025489
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143022335..143023905-chr3:143024400..143026913,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12636732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16853411	0.95[EUR][1000 genomes]
rs6765602	0.95[EUR][1000 genomes]
rs6778178	0.95[EUR][1000 genomes]
rs6806620	0.95[EUR][1000 genomes]
rs72992112	1.00[EUR][1000 genomes]
rs72992151	0.91[EUR][1000 genomes]
rs73868773	0.91[ASN][1000 genomes]
rs73868774	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv520125	chr3:143020870-143029022	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143015200-143039600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:143018200-143026400	Weak transcription	GM12878-XiMat	blood
3	chr3:143018400-143039400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:143019600-143026600	Enhancers	Fetal Lung	lung
5	chr3:143021000-143026600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:143021200-143029000	Weak transcription	Primary T cells from cord blood	blood
7	chr3:143021600-143026400	Weak transcription	Lung	lung
8	chr3:143021800-143029000	Weak transcription	Fetal Kidney	kidney
9	chr3:143022000-143025600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:143022000-143026200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:143022000-143026400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:143022000-143026400	Weak transcription	NH-A	brain
13	chr3:143022000-143032400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:143022200-143026400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:143022400-143026400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:143022400-143032200	Weak transcription	Fetal Thymus	thymus
17	chr3:143022400-143048200	Weak transcription	Psoas Muscle	Psoas
18	chr3:143022600-143026200	Weak transcription	Adipose Nuclei	Adipose
19	chr3:143022600-143026400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:143022600-143026600	Weak transcription	Dnd41	blood
21	chr3:143022600-143027600	Weak transcription	Placenta	Placenta
22	chr3:143022600-143030000	Weak transcription	HSMMtube	muscle
23	chr3:143022800-143025800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:143022800-143026400	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:143023800-143026200	Enhancers	K562	blood
26	chr3:143024000-143025600	Enhancers	Right Atrium	heart
27	chr3:143024000-143027200	Enhancers	HUVEC	blood vessel
28	chr3:143024200-143027000	Enhancers	Stomach Mucosa	stomach
29	chr3:143024600-143027000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:143025000-143025600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:143025000-143025600	Enhancers	Esophagus	oesophagus
32	chr3:143025000-143025600	Enhancers	Left Ventricle	heart
33	chr3:143025000-143025800	Enhancers	NHEK	skin
34	chr3:143025000-143026000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:143025000-143026400	Enhancers	Liver	Liver
36	chr3:143025000-143026600	Enhancers	Duodenum Mucosa	Duodenum
37	chr3:143025000-143026800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr3:143025000-143026800	Enhancers	HMEC	breast
39	chr3:143025000-143027000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:143025000-143027000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:143025000-143027000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr3:143025000-143027800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:143025200-143025600	Weak transcription	Spleen	Spleen
44	chr3:143025200-143025800	Weak transcription	Right Ventricle	heart
45	chr3:143025200-143026600	Enhancers	HSMM	muscle
46	chr3:143025400-143025600	Enhancers	Ovary	ovary
47	chr3:143025400-143025600	Enhancers	NHDF-Ad	bronchial
48	chr3:143025400-143026400	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links