Variant report

Variant	rs56222737
Chromosome Location	chr5:43711882-43711883
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	chr5:43706278..43710005-chr5:43710732..43713947,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10052717	1.00[AMR][1000 genomes]
rs10054154	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10054206	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10058837	1.00[AMR][1000 genomes]
rs10065095	1.00[AMR][1000 genomes]
rs10067068	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078602	1.00[AMR][1000 genomes]
rs10472385	1.00[AMR][1000 genomes]
rs10473317	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13359176	1.00[AMR][1000 genomes]
rs13436624	1.00[AMR][1000 genomes]
rs28629332	1.00[AMR][1000 genomes]
rs58623090	1.00[AMR][1000 genomes]
rs59405308	1.00[AMR][1000 genomes]
rs59604594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59661208	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59750428	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60376053	1.00[AMR][1000 genomes]
rs6883158	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751749	1.00[AMR][1000 genomes]
rs73751782	1.00[AMR][1000 genomes]
rs73751785	1.00[AMR][1000 genomes]
rs73751787	1.00[AMR][1000 genomes]
rs73751793	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751795	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751798	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751801	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73753610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73753611	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7701080	1.00[AMR][1000 genomes]
rs7702908	1.00[AMR][1000 genomes]
rs7719138	1.00[AMR][1000 genomes]
rs9292889	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9292890	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654395	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv3471542	chr5:43665651-43824536	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3471543	chr5:43665767-43824443	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43680800-43715400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:43684200-43715400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:43684800-43714600	Weak transcription	Aorta	Aorta
4	chr5:43697000-43715000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:43703400-43712800	Weak transcription	Brain Anterior Caudate	brain
6	chr5:43704800-43715200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:43705000-43715600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:43705600-43713000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:43706000-43716600	Weak transcription	Primary T cells from cord blood	blood
10	chr5:43706000-43725000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:43706400-43713200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:43711400-43712000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:43711400-43712000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:43711400-43712000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:43711400-43712000	Enhancers	Fetal Heart	heart
16	chr5:43711400-43712000	Enhancers	NHLF	lung
17	chr5:43711400-43712200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:43711400-43712400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:43711400-43712400	Enhancers	HSMM	muscle
20	chr5:43711400-43712400	Enhancers	NH-A	brain
21	chr5:43711600-43712000	Enhancers	HMEC	breast
22	chr5:43711600-43712000	Enhancers	NHEK	skin
23	chr5:43711600-43712000	Enhancers	Osteobl	bone
24	chr5:43711600-43712200	Enhancers	Fetal Lung	lung
25	chr5:43711800-43712000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:43711800-43714400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:43711800-43714800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:43711800-43715600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:43711800-43715600	Weak transcription	HSMMtube	muscle

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