Variant report

Variant	rs56259252
Chromosome Location	chr4:20722740-20722741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58573945	1.00[AMR][1000 genomes]
rs59886929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61267354	0.91[AFR][1000 genomes]
rs73802306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802313	0.91[AFR][1000 genomes]
rs73805125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73805126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73805128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73805129	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013077	chr4:20599841-20732558	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20703000-20722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:20703000-20741400	Weak transcription	Stomach Mucosa	stomach
3	chr4:20703200-20722800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:20703200-20741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:20703400-20722800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:20703400-20722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:20703400-20723600	Weak transcription	Pancreas	Pancrea
8	chr4:20703400-20724000	Weak transcription	A549	lung
9	chr4:20706800-20738600	Weak transcription	Psoas Muscle	Psoas
10	chr4:20707200-20722800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:20707200-20722800	Weak transcription	Thymus	Thymus
12	chr4:20707200-20723200	Weak transcription	Esophagus	oesophagus
13	chr4:20707200-20723400	Weak transcription	Colonic Mucosa	Colon
14	chr4:20707200-20724000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:20707200-20739400	Weak transcription	HepG2	liver
16	chr4:20707600-20723000	Weak transcription	Right Ventricle	heart
17	chr4:20707600-20724000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:20707600-20724000	Weak transcription	NHEK	skin
19	chr4:20707600-20724000	Weak transcription	NHLF	lung
20	chr4:20708000-20724000	Weak transcription	HMEC	breast
21	chr4:20708200-20733600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:20709400-20722800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:20709400-20724200	Weak transcription	HUVEC	blood vessel
24	chr4:20712600-20724000	Weak transcription	HSMM	muscle
25	chr4:20715000-20723600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr4:20715200-20724000	Weak transcription	Primary B cells from cord blood	blood
27	chr4:20715200-20724000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:20715400-20724000	Weak transcription	K562	blood
29	chr4:20715400-20738600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:20715400-20739400	Weak transcription	Osteobl	bone
31	chr4:20717600-20722800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:20717800-20722800	Weak transcription	Fetal Intestine Small	intestine
33	chr4:20717800-20724200	Weak transcription	NH-A	brain
34	chr4:20718000-20722800	Weak transcription	Lung	lung
35	chr4:20718000-20722800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:20718000-20723400	Weak transcription	Aorta	Aorta
37	chr4:20718000-20738600	Weak transcription	NHDF-Ad	bronchial
38	chr4:20718200-20722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:20718200-20722800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:20718200-20722800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:20718200-20722800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:20718200-20723400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:20718200-20723600	Weak transcription	Brain Angular Gyrus	brain
44	chr4:20718200-20724000	Weak transcription	Fetal Brain Male	brain
45	chr4:20718200-20724000	Weak transcription	HSMMtube	muscle
46	chr4:20718200-20738400	Weak transcription	Fetal Heart	heart
47	chr4:20718400-20722800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:20720800-20723600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:20721600-20727600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:20721800-20722800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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