Variant report

Variant	rs56223023
Chromosome Location	chr4:186786666-186786667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10213407	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1027525	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10866285	0.83[EUR][1000 genomes]
rs11132356	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11934426	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11934935	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11940307	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13104167	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1391867	0.81[ASN][1000 genomes]
rs1869623	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960151	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2133377	0.89[EUR][1000 genomes]
rs2310366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2603734	0.88[EUR][1000 genomes]
rs2603735	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2648112	0.85[ASN][1000 genomes]
rs2648115	0.89[EUR][1000 genomes]
rs2648116	0.89[EUR][1000 genomes]
rs2648120	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2648122	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2648123	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3796646	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5006592	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6552928	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6833174	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6833975	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6834169	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6835880	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6846833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848278	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7658732	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7660468	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7682191	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7693173	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186771600-186791600	Weak transcription	Right Atrium	heart
2	chr4:186780000-186786800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:186781000-186786800	Weak transcription	Stomach Mucosa	stomach
4	chr4:186784200-186791400	Weak transcription	Right Ventricle	heart
5	chr4:186785400-186788800	Weak transcription	Fetal Stomach	stomach
6	chr4:186785600-186787000	Weak transcription	Fetal Intestine Small	intestine
7	chr4:186785600-186794800	Enhancers	Fetal Heart	heart
8	chr4:186786000-186786800	Enhancers	Pancreas	Pancrea
9	chr4:186786200-186787400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:186786200-186787800	Enhancers	HSMMtube	muscle
11	chr4:186786400-186787800	Enhancers	HSMM	muscle
12	chr4:186786600-186786800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:186786600-186787000	Flanking Active TSS	Liver	Liver
14	chr4:186786600-186787600	Enhancers	NH-A	brain
15	chr4:186786600-186787600	Enhancers	NHEK	skin
16	chr4:186786600-186787600	Enhancers	Osteobl	bone
17	chr4:186786600-186787800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:186786600-186790000	Weak transcription	Left Ventricle	heart

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