Variant report

Variant	rs1078502
Chromosome Location	chr1:222214580-222214581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1339871	0.91[ASN][1000 genomes]
rs17011186	0.91[ASN][1000 genomes]
rs17011190	0.91[ASN][1000 genomes]
rs17011199	0.91[ASN][1000 genomes]
rs17011200	0.84[ASN][1000 genomes]
rs17011202	0.91[ASN][1000 genomes]
rs17011219	0.95[ASN][1000 genomes]
rs17011229	0.95[ASN][1000 genomes]
rs17011236	0.95[ASN][1000 genomes]
rs2790759	0.91[ASN][1000 genomes]
rs56328548	0.91[ASN][1000 genomes]
rs56937190	0.89[ASN][1000 genomes]
rs57708351	0.89[ASN][1000 genomes]
rs58894876	0.91[ASN][1000 genomes]
rs59437737	0.89[ASN][1000 genomes]
rs74147368	0.95[ASN][1000 genomes]
rs869254	1.00[ASN][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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222195000-222216000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:222204200-222216600	Weak transcription	Aorta	Aorta
3	chr1:222207000-222217200	Enhancers	Fetal Heart	heart
4	chr1:222211200-222215200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:222211200-222216600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:222211400-222215200	Weak transcription	Osteobl	bone
7	chr1:222211400-222216800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:222211800-222215200	Weak transcription	HSMMtube	muscle
9	chr1:222212600-222214600	Enhancers	Fetal Muscle Leg	muscle
10	chr1:222212800-222214600	Enhancers	Right Ventricle	heart
11	chr1:222212800-222215200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:222212800-222216600	Weak transcription	Liver	Liver
13	chr1:222213600-222214600	Enhancers	Colon Smooth Muscle	Colon
14	chr1:222214000-222215200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:222214000-222216200	Weak transcription	Psoas Muscle	Psoas
16	chr1:222214000-222216600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:222214000-222216600	Weak transcription	Right Atrium	heart
18	chr1:222214000-222216800	Weak transcription	Fetal Brain Male	brain
19	chr1:222214200-222214600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr1:222214200-222214600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr1:222214200-222216400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:222214400-222215800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:222214400-222216600	Weak transcription	Left Ventricle	heart

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