Variant report

Variant	rs2170689
Chromosome Location	chr4:53861352-53861353
allele	C/T
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];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133240	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13104612	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120717	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123449	0.96[EUR][1000 genomes]
rs13134756	0.89[ASN][1000 genomes]
rs1319626	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384695	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1531836	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898683	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs301089	0.96[EUR][1000 genomes]
rs301110	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs301112	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34704735	0.92[EUR][1000 genomes]
rs3849652	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs403536	0.96[EUR][1000 genomes]
rs6554062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554063	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831230	0.97[EUR][1000 genomes]
rs6844522	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6853639	0.97[EUR][1000 genomes]
rs7685087	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689426	0.97[EUR][1000 genomes]
rs958693	0.95[AMR][1000 genomes];1.00[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53786600-53861400	Weak transcription	Primary B cells from cord blood	blood
2	chr4:53850400-53864600	Weak transcription	Primary T cells from cord blood	blood
3	chr4:53850400-53869600	Weak transcription	GM12878-XiMat	blood
4	chr4:53851000-53861800	Weak transcription	NHLF	lung
5	chr4:53851000-53863200	Weak transcription	HepG2	liver
6	chr4:53851200-53861400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:53851400-53861400	Weak transcription	NHDF-Ad	bronchial
8	chr4:53851600-53861400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:53856800-53861600	Weak transcription	Fetal Lung	lung
10	chr4:53857800-53870200	Weak transcription	Psoas Muscle	Psoas
11	chr4:53858200-53862000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:53859200-53862800	Weak transcription	Fetal Intestine Small	intestine
13	chr4:53859600-53867200	Enhancers	Ovary	ovary
14	chr4:53859800-53862600	Enhancers	HMEC	breast
15	chr4:53859800-53864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:53860000-53861400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:53860000-53862000	Enhancers	Esophagus	oesophagus
18	chr4:53860000-53862600	Enhancers	Fetal Muscle Trunk	muscle
19	chr4:53860000-53864000	Enhancers	Fetal Stomach	stomach
20	chr4:53860000-53864600	Enhancers	Fetal Muscle Leg	muscle
21	chr4:53860000-53864600	Enhancers	Pancreas	Pancrea
22	chr4:53860200-53862000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:53860400-53861400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:53860400-53862800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:53860400-53863200	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:53860400-53864200	Weak transcription	Fetal Thymus	thymus
27	chr4:53860600-53861400	Weak transcription	Left Ventricle	heart
28	chr4:53860600-53861600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:53860800-53861400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:53860800-53862000	Weak transcription	Aorta	Aorta
31	chr4:53860800-53862200	Weak transcription	Fetal Kidney	kidney
32	chr4:53860800-53862400	Weak transcription	Right Ventricle	heart
33	chr4:53861000-53861400	Weak transcription	Fetal Heart	heart
34	chr4:53861000-53861400	Weak transcription	Right Atrium	heart
35	chr4:53861000-53862000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:53861200-53862200	Enhancers	NHEK	skin

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