Variant report

Variant	rs6554063
Chromosome Location	chr4:53861585-53861586
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53841214..53843333-chr4:53860966..53863759,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10010254	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133240	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13104612	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120717	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123449	0.93[EUR][1000 genomes]
rs13134756	0.89[ASN][1000 genomes]
rs1319626	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384695	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1531836	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170689	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898683	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs301089	0.93[EUR][1000 genomes]
rs301110	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs301112	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34704735	0.89[EUR][1000 genomes]
rs3849652	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs403536	0.93[EUR][1000 genomes]
rs6554062	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831230	0.94[EUR][1000 genomes]
rs6844522	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6853639	0.94[EUR][1000 genomes]
rs7685087	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689426	0.94[EUR][1000 genomes]
rs958693	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv508280	chr4:53825060-53907661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53850400-53864600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:53850400-53869600	Weak transcription	GM12878-XiMat	blood
3	chr4:53851000-53861800	Weak transcription	NHLF	lung
4	chr4:53851000-53863200	Weak transcription	HepG2	liver
5	chr4:53856800-53861600	Weak transcription	Fetal Lung	lung
6	chr4:53857800-53870200	Weak transcription	Psoas Muscle	Psoas
7	chr4:53858200-53862000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:53859200-53862800	Weak transcription	Fetal Intestine Small	intestine
9	chr4:53859600-53867200	Enhancers	Ovary	ovary
10	chr4:53859800-53862600	Enhancers	HMEC	breast
11	chr4:53859800-53864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:53860000-53862000	Enhancers	Esophagus	oesophagus
13	chr4:53860000-53862600	Enhancers	Fetal Muscle Trunk	muscle
14	chr4:53860000-53864000	Enhancers	Fetal Stomach	stomach
15	chr4:53860000-53864600	Enhancers	Fetal Muscle Leg	muscle
16	chr4:53860000-53864600	Enhancers	Pancreas	Pancrea
17	chr4:53860200-53862000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:53860400-53862800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:53860400-53863200	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:53860400-53864200	Weak transcription	Fetal Thymus	thymus
21	chr4:53860600-53861600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:53860800-53862000	Weak transcription	Aorta	Aorta
23	chr4:53860800-53862200	Weak transcription	Fetal Kidney	kidney
24	chr4:53860800-53862400	Weak transcription	Right Ventricle	heart
25	chr4:53861000-53862000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:53861200-53862200	Enhancers	NHEK	skin
27	chr4:53861400-53861600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:53861400-53861600	Enhancers	Lung	lung
29	chr4:53861400-53861600	Enhancers	Right Atrium	heart
30	chr4:53861400-53862000	Enhancers	Fetal Heart	heart
31	chr4:53861400-53862000	Enhancers	Spleen	Spleen
32	chr4:53861400-53862200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:53861400-53862200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:53861400-53862200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:53861400-53862200	Enhancers	NHDF-Ad	bronchial
36	chr4:53861400-53864200	Enhancers	Placenta	Placenta
37	chr4:53861400-53864600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:53861400-53864600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr4:53861400-53864600	Enhancers	Left Ventricle	heart

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