Variant report

Variant	rs13058453
Chromosome Location	chr22:29353630-29353631
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	chr22:29353102..29355406-chr22:29355625..29358166,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13056243	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16986825	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16986838	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16986861	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16986864	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28360615	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34578331	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4055	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739196	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs916332	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29346400-29353800	Weak transcription	NHEK	skin
2	chr22:29346400-29357400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr22:29347600-29356200	Weak transcription	Brain Germinal Matrix	brain
4	chr22:29348200-29353800	Enhancers	Colon Smooth Muscle	Colon
5	chr22:29348200-29365000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr22:29348800-29360400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr22:29349200-29356800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:29349200-29365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:29349200-29371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:29349200-29371800	Weak transcription	HSMM	muscle
11	chr22:29349400-29354400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:29349400-29354600	Weak transcription	Adipose Nuclei	Adipose
13	chr22:29349400-29357200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:29349400-29357400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:29349400-29357400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:29349600-29354400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr22:29349600-29354400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:29349600-29354800	Weak transcription	A549	lung
19	chr22:29349600-29357200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:29349600-29359600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:29349800-29360400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr22:29350000-29354400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr22:29350000-29354400	Weak transcription	Esophagus	oesophagus
24	chr22:29350000-29354400	Weak transcription	Left Ventricle	heart
25	chr22:29350000-29358400	Weak transcription	Fetal Lung	lung
26	chr22:29350000-29363000	Weak transcription	Liver	Liver
27	chr22:29350000-29372800	Weak transcription	Aorta	Aorta
28	chr22:29350200-29354400	Weak transcription	Fetal Kidney	kidney
29	chr22:29350200-29357800	Weak transcription	K562	blood
30	chr22:29350400-29354200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:29350400-29354600	Weak transcription	Pancreas	Pancrea
32	chr22:29350400-29361000	Weak transcription	Ovary	ovary
33	chr22:29350800-29354400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:29350800-29357800	Weak transcription	HSMMtube	muscle
35	chr22:29351200-29354200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr22:29351400-29362200	Genic enhancers	HepG2	liver
37	chr22:29352200-29354400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:29352200-29354400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr22:29352200-29354400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr22:29352200-29354800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr22:29352400-29354400	Weak transcription	Fetal Stomach	stomach
42	chr22:29352400-29359600	Weak transcription	Gastric	stomach
43	chr22:29352600-29354400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:29352800-29354600	Weak transcription	Lung	lung
45	chr22:29352800-29355000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr22:29352800-29360400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr22:29353000-29354200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr22:29353000-29354400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr22:29353000-29354400	Weak transcription	Fetal Intestine Large	intestine
50	chr22:29353000-29354400	Weak transcription	Right Atrium	heart

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