Variant report

Variant	rs62167427
Chromosome Location	chr2:173172895-173172896
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	chr2:173171784..173174881-chr2:173175432..173178185,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10803872	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10803873	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10930543	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10930544	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10930546	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11682072	0.90[EUR][1000 genomes]
rs12475457	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12614676	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12692999	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3934990	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3935436	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3935437	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4522573	0.81[EUR][1000 genomes]
rs4588155	0.81[EUR][1000 genomes]
rs4972483	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4972782	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4972787	0.86[EUR][1000 genomes]
rs56030771	0.89[EUR][1000 genomes]
rs56206805	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62167402	0.81[EUR][1000 genomes]
rs6433348	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6433349	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6735215	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6735271	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6743235	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758468	0.90[EUR][1000 genomes]
rs7560146	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7569240	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7579339	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7595714	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7596005	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7605564	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3034	chr2:173160295-173200113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173170400-173177200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:173170600-173178000	Weak transcription	Spleen	Spleen
3	chr2:173171000-173176400	Weak transcription	Stomach Mucosa	stomach
4	chr2:173171800-173173800	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:173171800-173174000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:173172400-173173000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:173172400-173173000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:173172400-173173000	Enhancers	Fetal Intestine Large	intestine
9	chr2:173172400-173173000	Enhancers	Fetal Stomach	stomach
10	chr2:173172400-173173000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:173172400-173173800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr2:173172400-173174000	Enhancers	HMEC	breast
13	chr2:173172600-173173000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:173172600-173173000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:173172600-173173000	Enhancers	Brain Anterior Caudate	brain
16	chr2:173172600-173173000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:173172600-173173000	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:173172600-173173000	Enhancers	Fetal Lung	lung
19	chr2:173172600-173173000	Enhancers	Fetal Thymus	thymus
20	chr2:173172600-173173200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:173172600-173173400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:173172600-173173600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:173172600-173173600	Enhancers	Placenta	Placenta
24	chr2:173172600-173173800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:173172600-173173800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:173172600-173173800	Enhancers	Fetal Muscle Leg	muscle
27	chr2:173172600-173173800	Enhancers	NHEK	skin
28	chr2:173172600-173174000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:173172800-173173000	Enhancers	Brain Substantia Nigra	brain
30	chr2:173172800-173173000	Enhancers	Fetal Heart	heart
31	chr2:173172800-173173000	Enhancers	Lung	lung
32	chr2:173172800-173173000	Enhancers	Pancreas	Pancrea
33	chr2:173172800-173173000	Enhancers	Right Atrium	heart
34	chr2:173172800-173173200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:173172800-173173200	Enhancers	Brain Germinal Matrix	brain
36	chr2:173172800-173173200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr2:173172800-173173200	Flanking Active TSS	HUVEC	blood vessel
38	chr2:173172800-173173400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:173172800-173173600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:173172800-173173600	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr2:173172800-173173600	Enhancers	Esophagus	oesophagus
42	chr2:173172800-173173600	Enhancers	Left Ventricle	heart
43	chr2:173172800-173173800	Enhancers	Fetal Muscle Trunk	muscle
44	chr2:173172800-173173800	Enhancers	Right Ventricle	heart
45	chr2:173172800-173174200	Enhancers	Skeletal Muscle Male	skeletal muscle

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