Variant report

Variant	rs10006717
Chromosome Location	chr4:124573149-124573150
allele	A/G
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:20)

rs_ID	r²[population]
rs10011376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10518422	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11728834	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736969	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12499994	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12508844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509035	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12509315	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13115374	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13129658	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541733	0.90[ASN][1000 genomes]
rs2553359	0.91[ASN][1000 genomes]
rs2589843	0.85[ASN][1000 genomes]
rs2589847	0.91[ASN][1000 genomes]
rs35117841	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6534420	0.91[ASN][1000 genomes]
rs7660796	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9307530	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996214	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999581	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv879873	chr4:124528452-124590869	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv879874	chr4:124550693-124607201	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124570000-124573200	Enhancers	Stomach Mucosa	stomach
2	chr4:124570000-124573600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:124570400-124573600	Enhancers	Adipose Nuclei	Adipose
4	chr4:124570600-124573200	Enhancers	HSMMtube	muscle
5	chr4:124571000-124573400	Active TSS	Fetal Muscle Trunk	muscle
6	chr4:124571000-124574200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:124571200-124573600	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr4:124571400-124573600	Enhancers	Colon Smooth Muscle	Colon
9	chr4:124571600-124573200	Enhancers	HMEC	breast
10	chr4:124571600-124573200	Enhancers	NHLF	lung
11	chr4:124571600-124573600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:124571600-124573600	Enhancers	Fetal Kidney	kidney
13	chr4:124571600-124574200	Enhancers	Osteobl	bone
14	chr4:124571600-124574600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:124571800-124573400	Enhancers	Fetal Stomach	stomach
16	chr4:124571800-124574000	Enhancers	NHDF-Ad	bronchial
17	chr4:124571800-124574400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:124571800-124574800	Enhancers	HepG2	liver
19	chr4:124571800-124575000	Enhancers	Fetal Intestine Large	intestine
20	chr4:124571800-124577400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:124572200-124573800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr4:124572400-124573200	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr4:124572400-124573200	Enhancers	Psoas Muscle	Psoas
24	chr4:124572400-124573200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr4:124572400-124573400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:124572400-124573400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr4:124572400-124573600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:124572600-124573600	Enhancers	Small Intestine	intestine
29	chr4:124572600-124573800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:124572800-124573200	Enhancers	Colonic Mucosa	Colon
31	chr4:124572800-124573200	Enhancers	Placenta	Placenta
32	chr4:124572800-124573400	Enhancers	Duodenum Mucosa	Duodenum
33	chr4:124572800-124573800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr4:124573000-124573200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr4:124573000-124573600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:124573000-124573800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:124573000-124573800	Enhancers	Rectal Smooth Muscle	rectum
38	chr4:124573000-124574200	Enhancers	Fetal Intestine Small	intestine
39	chr4:124573000-124577200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:124573000-124577400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:124573000-124577600	Weak transcription	Aorta	Aorta
42	chr4:124573000-124581200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:124573000-124586400	Weak transcription	Pancreas	Pancrea
44	chr4:124573000-124598200	Weak transcription	Right Atrium	heart

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