Variant report

Variant	rs12128309
Chromosome Location	chr1:55909238-55909239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10493198	0.97[ASN][1000 genomes]
rs11206586	0.98[ASN][1000 genomes]
rs12066898	0.97[ASN][1000 genomes]
rs12561774	0.98[ASN][1000 genomes]
rs12564128	0.93[ASN][1000 genomes]
rs12564538	0.97[ASN][1000 genomes]
rs12566453	0.97[ASN][1000 genomes]
rs12566719	0.98[ASN][1000 genomes]
rs12569322	0.98[ASN][1000 genomes]
rs59432080	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs61774682	0.97[ASN][1000 genomes]
rs61776090	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61776091	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61776092	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61776093	0.96[ASN][1000 genomes]
rs61776095	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs61776099	0.98[ASN][1000 genomes]
rs7532502	0.97[ASN][1000 genomes]
rs7555620	0.91[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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:55906800-55914600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:55907000-55915600	Enhancers	NHDF-Ad	bronchial
3	chr1:55907800-55912600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:55907800-55915800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:55908000-55915000	Enhancers	Hela-S3	cervix
6	chr1:55908200-55909400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:55908200-55910400	Enhancers	A549	lung
8	chr1:55908600-55910400	Enhancers	Fetal Muscle Leg	muscle
9	chr1:55908600-55911000	Enhancers	Osteobl	bone
10	chr1:55908800-55909400	Enhancers	Aorta	Aorta
11	chr1:55908800-55909400	Active TSS	Fetal Brain Male	brain
12	chr1:55908800-55909400	Enhancers	Psoas Muscle	Psoas
13	chr1:55908800-55909400	Enhancers	Right Atrium	heart
14	chr1:55908800-55909400	Enhancers	HepG2	liver
15	chr1:55908800-55909600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:55908800-55909600	Enhancers	Ovary	ovary
17	chr1:55908800-55910000	Enhancers	NH-A	brain
18	chr1:55908800-55910200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:55908800-55910400	Enhancers	Adipose Nuclei	Adipose
20	chr1:55908800-55910400	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:55908800-55910400	Enhancers	HSMM	muscle
22	chr1:55908800-55910600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:55908800-55911600	Enhancers	Colon Smooth Muscle	Colon
24	chr1:55908800-55914400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:55908800-55915000	Enhancers	NHLF	lung
26	chr1:55909000-55909400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:55909000-55909600	Enhancers	Fetal Lung	lung
28	chr1:55909000-55910000	Enhancers	HSMMtube	muscle
29	chr1:55909000-55911400	Enhancers	Placenta	Placenta
30	chr1:55909000-55912600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:55909200-55909400	Enhancers	K562	blood
32	chr1:55909200-55909600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:55909200-55909600	Enhancers	HMEC	breast
34	chr1:55909200-55910000	Enhancers	Fetal Stomach	stomach
35	chr1:55909200-55910400	Enhancers	Fetal Muscle Trunk	muscle
36	chr1:55909200-55910400	Enhancers	HUVEC	blood vessel
37	chr1:55909200-55910600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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