Variant report

Variant	rs1277291
Chromosome Location	chr4:57931760-57931761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10516163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1277292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1277293	0.80[JPT][hapmap]
rs13117875	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13141016	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1614526	0.90[JPT][hapmap]
rs1714019	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1714021	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1714022	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1718843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718854	0.80[JPT][hapmap]
rs1718855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718856	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1718870	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:57923000-57931800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:57923000-57932000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:57923800-57937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:57926000-57931800	Genic enhancers	HSMMtube	muscle
7	chr4:57926600-57932600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:57927000-57932600	Enhancers	Left Ventricle	heart
9	chr4:57927000-57937400	Weak transcription	Small Intestine	intestine
10	chr4:57927600-57932600	Enhancers	Right Atrium	heart
11	chr4:57928200-57932400	Enhancers	Colon Smooth Muscle	Colon
12	chr4:57928400-57932200	Enhancers	Fetal Heart	heart
13	chr4:57928400-57932600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:57928800-57932200	Enhancers	Fetal Lung	lung
15	chr4:57929000-57932000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:57929000-57932400	Enhancers	Rectal Smooth Muscle	rectum
17	chr4:57929400-57932600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:57929800-57931800	Enhancers	Fetal Stomach	stomach
20	chr4:57929800-57931800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:57929800-57932800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:57930000-57932600	Enhancers	Right Ventricle	heart
23	chr4:57930200-57932200	Enhancers	Fetal Muscle Trunk	muscle
24	chr4:57930200-57932200	Enhancers	Lung	lung
25	chr4:57930200-57932600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:57930200-57932600	Enhancers	HSMM	muscle
27	chr4:57930600-57932200	Weak transcription	Psoas Muscle	Psoas
28	chr4:57930800-57932200	Enhancers	Aorta	Aorta
29	chr4:57930800-57932200	Flanking Active TSS	NH-A	brain
30	chr4:57930800-57932400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr4:57930800-57937400	Weak transcription	Fetal Kidney	kidney
32	chr4:57931000-57931800	Enhancers	NHEK	skin
33	chr4:57931000-57932000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr4:57931000-57932200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:57931000-57932200	Enhancers	Fetal Muscle Leg	muscle
36	chr4:57931000-57932200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr4:57931000-57932400	Enhancers	Brain Hippocampus Middle	brain
38	chr4:57931000-57932600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:57931000-57932600	Enhancers	Adipose Nuclei	Adipose
40	chr4:57931200-57931800	Weak transcription	Brain Anterior Caudate	brain
41	chr4:57931200-57931800	Active TSS	Ovary	ovary
42	chr4:57931200-57932400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr4:57931200-57932600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:57931200-57932600	Enhancers	Spleen	Spleen
45	chr4:57931200-57933000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:57931200-57936000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:57931200-57936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr4:57931200-57937000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr4:57931400-57931800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:57931400-57931800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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