Variant report

Variant	rs4556411
Chromosome Location	chr1:95553560-95553561
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95548633..95550280-chr1:95551848..95554407,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10127516	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10874903	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11576940	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11810584	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12562498	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12563154	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12717801	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12724815	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12743370	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3890845	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4309031	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4314930	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4335417	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4623755	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4950059	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4950070	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6593667	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6593670	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6690421	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7512953	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7541757	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7546710	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9437816	0.88[AMR][1000 genomes];0.96[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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95549200-95554200	Enhancers	Fetal Heart	heart
2	chr1:95551800-95557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:95552000-95553600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:95552000-95553800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:95552200-95554200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:95552400-95553600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:95552400-95553600	Enhancers	HSMM	muscle
8	chr1:95552400-95554200	Enhancers	Osteobl	bone
9	chr1:95552400-95556600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:95552600-95553600	Enhancers	Fetal Intestine Small	intestine
11	chr1:95552600-95553600	Enhancers	NHDF-Ad	bronchial
12	chr1:95552600-95554200	Enhancers	Adipose Nuclei	Adipose
13	chr1:95552800-95553600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:95552800-95554000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:95552800-95554600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:95553000-95553600	Enhancers	HUVEC	blood vessel
17	chr1:95553000-95553800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:95553000-95554000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:95553000-95554000	Enhancers	K562	blood
20	chr1:95553000-95554200	Enhancers	HepG2	liver
21	chr1:95553200-95554000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:95553400-95554400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:95553400-95554400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:95553400-95555600	Enhancers	A549	lung

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