Variant report

Variant	rs62053227
Chromosome Location	chr16:73026828-73026829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:73022117..73028240-chr16:73079651..73083166,6	MCF-7	breast:
2	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
3	chr16:73025536..73027422-chr16:73027660..73030408,3	K562	blood:
4	chr16:72998245..73000315-chr16:73026013..73027531,2	K562	blood:
5	chr16:73025771..73028422-chr16:73231840..73234836,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140836	Chromatin interaction
ENSG00000272250	Chromatin interaction
ENSG00000271009	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16971464	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62053220	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62053221	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62053222	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62053223	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62053225	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62053226	1.00[AMR][1000 genomes];0.98[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	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73016800-73028000	Enhancers	Left Ventricle	heart
2	chr16:73019000-73027200	Enhancers	Lung	lung
3	chr16:73019000-73035200	Enhancers	Placenta	Placenta
4	chr16:73019800-73031800	Enhancers	Fetal Lung	lung
5	chr16:73020800-73027800	Enhancers	Liver	Liver
6	chr16:73022800-73027400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:73023200-73027800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr16:73023200-73034800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:73023400-73028000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr16:73023400-73028800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:73023800-73033600	Weak transcription	Brain Angular Gyrus	brain
12	chr16:73023800-73035000	Enhancers	Psoas Muscle	Psoas
13	chr16:73024200-73035000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr16:73024400-73027000	Enhancers	Adipose Nuclei	Adipose
15	chr16:73024400-73027200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:73024400-73027800	Enhancers	Fetal Muscle Leg	muscle
17	chr16:73024400-73031400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr16:73024400-73033400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr16:73024600-73027000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:73024600-73027400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:73024600-73027800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:73024600-73027800	Enhancers	HSMM	muscle
23	chr16:73024600-73028000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr16:73024600-73028800	Weak transcription	Spleen	Spleen
25	chr16:73024600-73029000	Weak transcription	Aorta	Aorta
26	chr16:73024600-73029000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:73024600-73029200	Weak transcription	Fetal Thymus	thymus
28	chr16:73024600-73029800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr16:73024600-73030400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr16:73024600-73032000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr16:73024800-73029000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr16:73024800-73029200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr16:73024800-73030400	Weak transcription	Colonic Mucosa	Colon
34	chr16:73025000-73027800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:73025200-73027600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr16:73025200-73027800	Enhancers	Fetal Intestine Small	intestine
37	chr16:73025400-73027600	Enhancers	Hela-S3	cervix
38	chr16:73025400-73029400	Weak transcription	Stomach Mucosa	stomach
39	chr16:73025600-73027200	Enhancers	Fetal Muscle Trunk	muscle
40	chr16:73025600-73027400	Enhancers	Gastric	stomach
41	chr16:73025600-73027600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:73025600-73027800	Enhancers	Fetal Heart	heart
43	chr16:73025600-73028000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:73025600-73028400	Enhancers	HepG2	liver
45	chr16:73025600-73029600	Enhancers	Right Atrium	heart
46	chr16:73025600-73030200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:73025600-73030400	Weak transcription	HMEC	breast
48	chr16:73025600-73031800	Enhancers	Pancreas	Pancrea
49	chr16:73025800-73027000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:73025800-73030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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