Variant report

Variant	rs11118929
Chromosome Location	chr1:222216337-222216338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10863674	0.87[EUR][1000 genomes]
rs11118911	0.81[ASN][1000 genomes]
rs11118921	0.85[EUR][1000 genomes]
rs11118922	0.85[EUR][1000 genomes]
rs11118923	0.85[EUR][1000 genomes]
rs11118924	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11118925	0.84[EUR][1000 genomes]
rs12070612	0.82[EUR][1000 genomes]
rs12082069	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12083686	0.81[ASN][1000 genomes]
rs12090915	0.84[EUR][1000 genomes]
rs12403104	0.82[ASN][1000 genomes]
rs17441981	0.83[EUR][1000 genomes]
rs17442148	0.97[ASN][1000 genomes]
rs17495034	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2225999	0.87[EUR][1000 genomes]
rs34601597	0.82[ASN][1000 genomes]
rs4291507	0.81[ASN][1000 genomes]
rs59826275	0.88[ASN][1000 genomes]
rs61823898	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7538348	0.85[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	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222204200-222216600	Weak transcription	Aorta	Aorta
2	chr1:222207000-222217200	Enhancers	Fetal Heart	heart
3	chr1:222211200-222216600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:222211400-222216800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:222212800-222216600	Weak transcription	Liver	Liver
6	chr1:222214000-222216600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:222214000-222216600	Weak transcription	Right Atrium	heart
8	chr1:222214000-222216800	Weak transcription	Fetal Brain Male	brain
9	chr1:222214200-222216400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:222214400-222216600	Weak transcription	Left Ventricle	heart
11	chr1:222214600-222216600	Weak transcription	Right Ventricle	heart
12	chr1:222214600-222216600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:222214600-222218000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:222215200-222218000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:222215200-222218000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:222215200-222218200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:222215200-222218400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:222215200-222219400	Enhancers	HSMMtube	muscle
19	chr1:222215200-222219600	Enhancers	HSMM	muscle
20	chr1:222215800-222217200	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:222215800-222218000	Enhancers	Fetal Stomach	stomach
22	chr1:222215800-222218200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:222216200-222216600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:222216200-222216600	Weak transcription	NH-A	brain
25	chr1:222216200-222216600	Weak transcription	NHDF-Ad	bronchial
26	chr1:222216200-222216600	Weak transcription	Osteobl	bone
27	chr1:222216200-222217200	Enhancers	Psoas Muscle	Psoas
28	chr1:222216200-222218000	Enhancers	Colon Smooth Muscle	Colon
29	chr1:222216200-222218200	Enhancers	Fetal Muscle Leg	muscle

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