Variant report

Variant	rs13058493
Chromosome Location	chr22:28494756-28494757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs13054964	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13055218	1.00[EUR][1000 genomes]
rs13055244	0.81[EUR][1000 genomes]
rs13055409	0.93[EUR][1000 genomes]
rs13055548	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs13057007	0.82[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs13057353	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13057948	0.82[CEU][hapmap];0.98[EUR][1000 genomes]
rs135642	0.90[GIH][hapmap];1.00[MEX][hapmap]
rs16986197	0.85[YRI][hapmap];0.91[AMR][1000 genomes]
rs2142917	0.91[AMR][1000 genomes]
rs28360522	0.82[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34013124	0.98[EUR][1000 genomes]
rs34031771	0.81[EUR][1000 genomes]
rs34189918	0.95[EUR][1000 genomes]
rs34364992	0.95[EUR][1000 genomes]
rs34625726	0.95[EUR][1000 genomes]
rs34946887	0.88[EUR][1000 genomes]
rs35098100	0.98[EUR][1000 genomes]
rs35286067	0.88[EUR][1000 genomes]
rs35568348	0.88[EUR][1000 genomes]
rs35568804	0.81[EUR][1000 genomes]
rs35649017	1.00[EUR][1000 genomes]
rs35738822	0.81[AMR][1000 genomes]
rs35906248	1.00[EUR][1000 genomes]
rs36060887	0.80[EUR][1000 genomes]
rs71325266	0.81[EUR][1000 genomes]
rs71325269	0.88[EUR][1000 genomes]
rs71325273	1.00[EUR][1000 genomes]
rs71325275	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71325276	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7285440	1.00[MEX][hapmap]
rs736531	0.93[EUR][1000 genomes]
rs767919	0.82[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs8141981	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs910009	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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28466600-28503600	Weak transcription	Hela-S3	cervix
2	chr22:28472000-28494800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr22:28472000-28499000	Weak transcription	NHDF-Ad	bronchial
4	chr22:28472200-28498600	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:28472800-28495400	Weak transcription	Pancreas	Pancrea
6	chr22:28472800-28501000	Weak transcription	Gastric	stomach
7	chr22:28483600-28500000	Weak transcription	Spleen	Spleen
8	chr22:28485800-28501400	Strong transcription	Dnd41	blood
9	chr22:28485800-28508600	Weak transcription	Brain Substantia Nigra	brain
10	chr22:28486000-28507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:28486200-28504400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:28486200-28504800	Weak transcription	Osteobl	bone
13	chr22:28486400-28508600	Weak transcription	Psoas Muscle	Psoas
14	chr22:28486600-28498400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:28486600-28499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:28486600-28499400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr22:28486800-28494800	Weak transcription	Brain Angular Gyrus	brain
18	chr22:28486800-28498600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr22:28487000-28496800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:28487400-28495200	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:28487400-28497000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:28487400-28501200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr22:28487600-28504400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr22:28487800-28505000	Weak transcription	Colonic Mucosa	Colon
26	chr22:28488200-28499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:28488800-28501000	Weak transcription	Brain Hippocampus Middle	brain
28	chr22:28489000-28499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr22:28489000-28508200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr22:28489600-28500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:28489800-28508400	Weak transcription	Small Intestine	intestine
32	chr22:28490200-28496600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:28490400-28498600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:28490400-28499200	Strong transcription	Fetal Muscle Leg	muscle
35	chr22:28490400-28499400	Weak transcription	HSMM	muscle
36	chr22:28490400-28499400	Weak transcription	HSMMtube	muscle
37	chr22:28490600-28494800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:28490600-28499400	Weak transcription	Fetal Heart	heart
39	chr22:28490600-28504400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr22:28490800-28499200	Weak transcription	Esophagus	oesophagus
41	chr22:28491200-28503000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr22:28491600-28502000	Strong transcription	Fetal Intestine Large	intestine
43	chr22:28491800-28496800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr22:28491800-28497600	Strong transcription	Ovary	ovary
45	chr22:28491800-28499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:28492000-28498000	Strong transcription	Aorta	Aorta
47	chr22:28492200-28497600	Strong transcription	Lung	lung
48	chr22:28492200-28499000	Weak transcription	Placenta	Placenta
49	chr22:28492400-28497000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:28492600-28496600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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