Variant report

Variant	rs62147728
Chromosome Location	chr2:73244471-73244472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73243618..73245533-chr2:73248361..73249951,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1046183	0.86[AFR][1000 genomes]
rs10496188	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13404068	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17008541	0.95[EUR][1000 genomes]
rs17008565	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17008579	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17008608	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2421099	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3849393	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58731407	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59108557	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61164794	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61652727	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62147718	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62147722	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62147726	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62147727	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62147731	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62147733	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62147735	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62147756	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62148130	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66570372	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6710911	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6753054	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6753133	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6753301	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67673165	0.82[AMR][1000 genomes];0.93[EUR][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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:73208000-73247600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:73211000-73258400	Weak transcription	Colonic Mucosa	Colon
5	chr2:73212200-73247400	Weak transcription	HSMMtube	muscle
6	chr2:73214200-73247800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
8	chr2:73215800-73247400	Weak transcription	Thymus	Thymus
9	chr2:73215800-73263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:73216200-73248800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:73217400-73249000	Weak transcription	Ovary	ovary
12	chr2:73220600-73249000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:73220600-73263200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:73221200-73263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:73224600-73261200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:73226200-73248800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:73227600-73249000	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:73227800-73248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:73228000-73245800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:73228000-73248800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:73228400-73247400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:73228600-73248200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:73228800-73248600	Weak transcription	Placenta	Placenta
25	chr2:73230800-73245800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:73231000-73247400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:73233200-73270800	Weak transcription	Brain Germinal Matrix	brain
28	chr2:73235800-73247400	Weak transcription	Brain Angular Gyrus	brain
29	chr2:73236000-73248600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:73236000-73264200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:73236200-73247400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:73236400-73247600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:73236400-73248800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:73236600-73247800	Weak transcription	Primary T cells from cord blood	blood
35	chr2:73236600-73247800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:73236600-73248800	Weak transcription	Fetal Brain Female	brain
37	chr2:73236600-73249000	Weak transcription	Left Ventricle	heart
38	chr2:73236800-73246200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:73236800-73246400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:73236800-73247600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:73236800-73248800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:73236800-73258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:73237000-73245000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:73237000-73246000	Weak transcription	HepG2	liver
45	chr2:73237000-73247000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:73237000-73247400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:73237000-73247400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:73237000-73247400	Weak transcription	Fetal Intestine Small	intestine
49	chr2:73237000-73247400	Weak transcription	Fetal Stomach	stomach
50	chr2:73237000-73247400	Weak transcription	Gastric	stomach

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