Variant report

Variant	rs2953294
Chromosome Location	chr4:120547987-120547988
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:21)

rs_ID	r²[population]
rs10013852	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10021469	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10434030	0.82[EUR][1000 genomes]
rs10434031	0.82[EUR][1000 genomes]
rs17051276	0.82[EUR][1000 genomes]
rs17359764	0.82[EUR][1000 genomes]
rs2389871	0.92[AFR][1000 genomes]
rs2389872	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2389876	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2389877	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2389878	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2389884	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2953290	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3109370	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4146266	0.82[EUR][1000 genomes]
rs4833621	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6534145	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6534148	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6831062	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6854072	0.96[AFR][1000 genomes]
rs9307480	0.84[AFR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120544400-120550600	Active TSS	Aorta	Aorta
2	chr4:120544800-120550800	Active TSS	Stomach Smooth Muscle	stomach
3	chr4:120545000-120549000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr4:120545200-120549000	Active TSS	Duodenum Mucosa	Duodenum
5	chr4:120545200-120550400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr4:120545200-120550600	Active TSS	Colon Smooth Muscle	Colon
7	chr4:120545600-120550600	Active TSS	Fetal Kidney	kidney
8	chr4:120545800-120550600	Active TSS	Rectal Smooth Muscle	rectum
9	chr4:120546000-120550600	Active TSS	Fetal Lung	lung
10	chr4:120546200-120550600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:120546400-120550400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:120546600-120548200	Active TSS	Fetal Stomach	stomach
13	chr4:120546600-120550800	Active TSS	Right Atrium	heart
14	chr4:120546600-120551000	Active TSS	NHLF	lung
15	chr4:120546800-120548400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:120546800-120548600	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr4:120547000-120550400	Active TSS	Osteobl	bone
18	chr4:120547200-120548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:120547200-120548200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:120547200-120550600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr4:120547400-120548000	Bivalent/Poised TSS	Fetal Brain Male	brain
22	chr4:120547400-120548000	Flanking Active TSS	NH-A	brain
23	chr4:120547400-120548200	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr4:120547400-120548400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr4:120547400-120549200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:120547400-120550200	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr4:120547400-120550200	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr4:120547400-120550600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:120547400-120550600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:120547400-120550800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr4:120547400-120550800	Active TSS	NHDF-Ad	bronchial
32	chr4:120547600-120548000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:120547600-120548000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:120547600-120548000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr4:120547600-120548000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:120547600-120548000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr4:120547600-120548000	Flanking Active TSS	Fetal Heart	heart
38	chr4:120547600-120548000	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr4:120547600-120548000	Flanking Active TSS	Lung	lung
40	chr4:120547600-120548000	Flanking Active TSS	Ovary	ovary
41	chr4:120547600-120548000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr4:120547600-120548200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:120547600-120548200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:120547600-120548200	Active TSS	Brain Germinal Matrix	brain
45	chr4:120547600-120548200	Active TSS	Fetal Muscle Trunk	muscle
46	chr4:120547600-120548200	Active TSS	HMEC	breast
47	chr4:120547600-120548400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:120547600-120549400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr4:120547600-120549800	Active TSS	Colonic Mucosa	Colon
50	chr4:120547600-120550200	Active TSS	Esophagus	oesophagus

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