Variant report

Variant	rs72656257
Chromosome Location	chr4:86647422-86647423
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86636846..86639460-chr4:86646994..86650013,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2601857	0.90[EUR][1000 genomes]
rs343853	0.93[EUR][1000 genomes]
rs56030613	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56156027	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6821799	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6822082	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6847909	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72656226	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72656227	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72656231	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72656232	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72656233	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72656237	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72656243	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72656255	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72656262	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72656267	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72656269	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72656272	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72656274	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72656275	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72656276	0.90[EUR][1000 genomes]
rs72656277	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72656279	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72656289	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72656300	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72658213	0.82[AFR][1000 genomes]
rs7672859	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7691602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7696560	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][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	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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 miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86644000-86650200	Enhancers	NHDF-Ad	bronchial
2	chr4:86644800-86647800	Enhancers	Brain Cingulate Gyrus	brain
3	chr4:86645000-86647800	Enhancers	Brain Anterior Caudate	brain
4	chr4:86645000-86648200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:86645000-86650200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:86645800-86647600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:86645800-86648000	Enhancers	Liver	Liver
8	chr4:86646000-86647800	Enhancers	HSMM	muscle
9	chr4:86646000-86647800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr4:86646000-86648000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:86646000-86649000	Enhancers	Primary B cells from peripheral blood	blood
12	chr4:86646200-86647600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:86646200-86647600	Enhancers	Fetal Lung	lung
14	chr4:86646200-86647800	Enhancers	Brain Hippocampus Middle	brain
15	chr4:86646200-86648200	Enhancers	Adipose Nuclei	Adipose
16	chr4:86646400-86647600	Flanking Active TSS	GM12878-XiMat	blood
17	chr4:86646400-86647600	Enhancers	HSMMtube	muscle
18	chr4:86646400-86647800	Enhancers	Colon Smooth Muscle	Colon
19	chr4:86646400-86648000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:86646400-86648200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:86646400-86648400	Enhancers	Fetal Muscle Leg	muscle
22	chr4:86646400-86649000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:86646600-86647600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr4:86646600-86647800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:86646600-86647800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:86646600-86647800	Enhancers	Gastric	stomach
27	chr4:86646600-86647800	Enhancers	Left Ventricle	heart
28	chr4:86646600-86647800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr4:86646600-86647800	Enhancers	Small Intestine	intestine
30	chr4:86646600-86647800	Enhancers	Spleen	Spleen
31	chr4:86646600-86648000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr4:86646600-86648000	Enhancers	Primary hematopoietic stem cells	blood
33	chr4:86646600-86648400	Enhancers	Pancreas	Pancrea
34	chr4:86646600-86648400	Enhancers	Right Atrium	heart
35	chr4:86646800-86647600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:86646800-86647600	Weak transcription	Aorta	Aorta
37	chr4:86646800-86647800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr4:86646800-86647800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:86646800-86647800	Enhancers	Placenta	Placenta
40	chr4:86646800-86648000	Flanking Active TSS	K562	blood
41	chr4:86646800-86649400	Weak transcription	Fetal Kidney	kidney
42	chr4:86647000-86647800	Enhancers	Fetal Muscle Trunk	muscle
43	chr4:86647000-86647800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:86647000-86649400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:86647000-86653200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:86647000-86655400	Weak transcription	Brain Angular Gyrus	brain
47	chr4:86647200-86647600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr4:86647200-86647800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:86647200-86653200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:86647200-86658200	Weak transcription	Brain Inferior Temporal Lobe	brain

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