Variant report

Variant	rs9999581
Chromosome Location	chr4:124574280-124574281
allele	C/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:20)

rs_ID	r²[population]
rs10006717	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10011376	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10518422	0.84[EUR][1000 genomes]
rs11728834	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736969	0.84[EUR][1000 genomes]
rs12499994	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12508844	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509035	0.84[EUR][1000 genomes]
rs12509315	0.87[EUR][1000 genomes]
rs13115374	0.88[EUR][1000 genomes]
rs13129658	0.99[AFR][1000 genomes];1.00[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	0.84[EUR][1000 genomes]
rs6534420	0.91[ASN][1000 genomes]
rs7660796	0.83[EUR][1000 genomes]
rs9307530	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996214	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124571600-124574600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:124571800-124574400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:124571800-124574800	Enhancers	HepG2	liver
4	chr4:124571800-124575000	Enhancers	Fetal Intestine Large	intestine
5	chr4:124571800-124577400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:124573000-124577200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:124573000-124577400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:124573000-124577600	Weak transcription	Aorta	Aorta
9	chr4:124573000-124581200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:124573000-124586400	Weak transcription	Pancreas	Pancrea
11	chr4:124573000-124598200	Weak transcription	Right Atrium	heart
12	chr4:124573200-124580400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:124573200-124580400	Weak transcription	Stomach Mucosa	stomach
14	chr4:124573200-124585000	Weak transcription	Psoas Muscle	Psoas
15	chr4:124573400-124577400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:124573400-124577600	Weak transcription	Fetal Stomach	stomach
17	chr4:124573400-124592400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:124573600-124574400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:124573600-124574600	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:124573600-124581200	Weak transcription	Adipose Nuclei	Adipose
21	chr4:124573600-124582200	Weak transcription	Fetal Kidney	kidney
22	chr4:124573800-124577400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:124573800-124595200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:124574000-124574600	Enhancers	Fetal Muscle Trunk	muscle
25	chr4:124574200-124574800	Weak transcription	Fetal Intestine Small	intestine
26	chr4:124574200-124574800	Enhancers	Fetal Muscle Leg	muscle

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