Variant report

Variant	rs486154
Chromosome Location	chr4:74973633-74973634
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1246766	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1261907	1.00[AMR][1000 genomes]
rs164755	1.00[AMR][1000 genomes]
rs164756	1.00[AMR][1000 genomes]
rs16850399	1.00[AMR][1000 genomes]
rs16850536	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs191613	1.00[AMR][1000 genomes]
rs2573028	1.00[AMR][1000 genomes]
rs352039	1.00[AMR][1000 genomes]
rs352040	1.00[AMR][1000 genomes]
rs352049	1.00[AMR][1000 genomes]
rs472689	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs488994	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs499451	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs505197	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs526993	1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs539431	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs543325	1.00[CHB][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs550282	1.00[AMR][1000 genomes]
rs551055	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs570922	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs571068	1.00[AMR][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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74965600-74974800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:74966200-74975000	Enhancers	Hela-S3	cervix
3	chr4:74966400-74974400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:74966800-74978000	Weak transcription	Gastric	stomach
5	chr4:74968400-74974600	Weak transcription	K562	blood
6	chr4:74968600-74974000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:74969000-74974200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:74970200-74975000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:74971200-74977200	Enhancers	Fetal Intestine Small	intestine
10	chr4:74971800-74974600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:74971800-74975000	Weak transcription	Right Atrium	heart
12	chr4:74971800-74977800	Weak transcription	Brain Anterior Caudate	brain
13	chr4:74972000-74974800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:74972000-74974800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:74972000-74975000	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:74972000-74982000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:74972200-74974400	Weak transcription	Adipose Nuclei	Adipose
18	chr4:74972200-74974600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:74972200-74978000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:74972400-74973800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:74972400-74974200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:74972400-74974800	Weak transcription	Pancreas	Pancrea
23	chr4:74972800-74973800	Weak transcription	Fetal Intestine Large	intestine
24	chr4:74972800-74974600	Weak transcription	Stomach Mucosa	stomach
25	chr4:74972800-74974800	Weak transcription	Liver	Liver
26	chr4:74972800-74974800	Weak transcription	Small Intestine	intestine
27	chr4:74972800-74975200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:74972800-74975200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:74972800-74980200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:74973000-74973800	Weak transcription	A549	lung
31	chr4:74973000-74974200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:74973000-74974800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:74973000-74978600	Enhancers	HUVEC	blood vessel
34	chr4:74973400-74974000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:74973400-74974600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:74973400-74974600	Enhancers	HMEC	breast
37	chr4:74973400-74974600	Enhancers	NHDF-Ad	bronchial
38	chr4:74973400-74974600	Enhancers	NHEK	skin
39	chr4:74973400-74980200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:74973600-74974400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:74973600-74974400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:74973600-74974400	Enhancers	Osteobl	bone
43	chr4:74973600-74974600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:74973600-74974600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:74973600-74974600	Enhancers	HSMM	muscle
46	chr4:74973600-74975200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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