Variant report

Variant	rs4458281
Chromosome Location	chr20:16259471-16259472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:16259201..16261039-chr20:16261125..16263893,2	MCF-7	breast:
2	chr20:16256768..16258908-chr20:16259342..16260867,2	K562	blood:
3	chr20:16250737..16252251-chr20:16257210..16259661,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1052634	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2257057	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2282054	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2328012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6043844	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6105563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv833930	chr20:16134347-16302763	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16242400-16275000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:16247600-16290800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr20:16248400-16260800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr20:16248400-16261000	Weak transcription	Left Ventricle	heart
5	chr20:16248400-16263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr20:16248400-16263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr20:16248600-16291400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:16248800-16267000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr20:16248800-16272600	Weak transcription	Primary T cells from cord blood	blood
10	chr20:16249000-16272800	Weak transcription	Right Ventricle	heart
11	chr20:16249200-16277400	Weak transcription	Brain Substantia Nigra	brain
12	chr20:16249400-16264000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr20:16250000-16266800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr20:16250600-16260600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr20:16250800-16263400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:16251000-16265000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr20:16251400-16263000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr20:16251400-16263800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:16252000-16270800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr20:16252000-16289400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr20:16252400-16264400	Weak transcription	Small Intestine	intestine
22	chr20:16252400-16283000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr20:16252800-16264800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:16253000-16260800	Weak transcription	Psoas Muscle	Psoas
25	chr20:16253000-16277800	Weak transcription	Brain Angular Gyrus	brain
26	chr20:16253600-16268200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr20:16254000-16259600	Weak transcription	HepG2	liver
28	chr20:16254000-16263200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr20:16254000-16263200	Weak transcription	Fetal Stomach	stomach
30	chr20:16254000-16263800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr20:16254000-16264000	Weak transcription	Aorta	Aorta
32	chr20:16254000-16264400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr20:16254000-16265200	Weak transcription	NHEK	skin
34	chr20:16254000-16278800	Weak transcription	Adipose Nuclei	Adipose
35	chr20:16254000-16281400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr20:16254000-16290800	Weak transcription	Esophagus	oesophagus
37	chr20:16254000-16298400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr20:16254200-16262400	Weak transcription	Gastric	stomach
39	chr20:16254200-16278600	Weak transcription	Pancreas	Pancrea
40	chr20:16254200-16284200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr20:16254400-16263000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr20:16254600-16262000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr20:16254600-16264000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr20:16255400-16261000	Weak transcription	Spleen	Spleen
45	chr20:16255400-16263200	Weak transcription	Fetal Brain Female	brain
46	chr20:16255400-16263200	Weak transcription	Fetal Intestine Small	intestine
47	chr20:16255400-16283000	Weak transcription	Fetal Lung	lung
48	chr20:16255600-16262400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr20:16256800-16260800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr20:16256800-16261000	Weak transcription	Lung	lung

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