Variant report

Variant	rs2357605
Chromosome Location	chr4:148079417-148079418
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148078667..148079597-chr4:148511157..148512035,4	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11938488	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11947583	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1354884	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1354885	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17611755	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1911587	0.83[EUR][1000 genomes]
rs2174801	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2357604	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2357606	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2357609	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2884222	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58378349	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59834135	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59870625	0.83[EUR][1000 genomes]
rs61379585	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62341519	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs937880	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs937881	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[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	nsv1024629	chr4:147987351-148277008	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148078400-148080000	Enhancers	Fetal Heart	heart
2	chr4:148078600-148079600	Enhancers	Fetal Kidney	kidney
3	chr4:148078800-148080000	Enhancers	Stomach Mucosa	stomach
4	chr4:148079000-148079600	Active TSS	Brain Germinal Matrix	brain
5	chr4:148079000-148079600	Active TSS	Fetal Brain Female	brain
6	chr4:148079000-148079600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr4:148079000-148079800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:148079000-148079800	Flanking Active TSS	Fetal Muscle Trunk	muscle
9	chr4:148079000-148079800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr4:148079000-148080000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr4:148079000-148080000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:148079000-148080000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:148079000-148080000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:148079000-148080000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr4:148079000-148080000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr4:148079000-148080000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:148079000-148080000	Enhancers	Fetal Brain Male	brain
18	chr4:148079000-148080000	Active TSS	A549	lung
19	chr4:148079000-148080000	Active TSS	HSMM	muscle
20	chr4:148079200-148079600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:148079200-148079600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:148079200-148079600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:148079200-148079600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr4:148079200-148079600	Bivalent Enhancer	Liver	Liver
25	chr4:148079200-148079600	Active TSS	Brain Hippocampus Middle	brain
26	chr4:148079200-148079600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr4:148079200-148079600	Active TSS	Left Ventricle	heart
28	chr4:148079200-148079600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
29	chr4:148079200-148079600	Active TSS	NH-A	brain
30	chr4:148079200-148079600	Active TSS	NHEK	skin
31	chr4:148079200-148079600	Active TSS	Osteobl	bone
32	chr4:148079200-148079800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:148079200-148079800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr4:148079200-148079800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:148079200-148079800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr4:148079200-148079800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:148079200-148079800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:148079200-148079800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:148079200-148079800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:148079200-148079800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:148079200-148079800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:148079200-148079800	Active TSS	Brain Substantia Nigra	brain
43	chr4:148079200-148079800	Bivalent/Poised TSS	Colonic Mucosa	Colon
44	chr4:148079200-148079800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr4:148079200-148079800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr4:148079200-148079800	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr4:148079200-148079800	Flanking Active TSS	Fetal Stomach	stomach
48	chr4:148079200-148079800	Flanking Active TSS	Psoas Muscle	Psoas
49	chr4:148079200-148079800	Active TSS	Rectal Smooth Muscle	rectum
50	chr4:148079200-148079800	Active TSS	Right Ventricle	heart

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