Variant report

Variant	rs73248703
Chromosome Location	chr6:164005514-164005515
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163838578..163840743-chr6:164003751..164005658,2	K562	blood:
2	chr6:163833702..163836881-chr6:164004949..164008923,4	K562	blood:
3	chr6:163834825..163838285-chr6:164001689..164007516,7	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs16895106	0.83[AMR][1000 genomes]
rs16895109	0.83[AMR][1000 genomes]
rs16895112	0.83[AMR][1000 genomes]
rs56003099	0.90[AFR][1000 genomes]
rs56276977	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56375308	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57075041	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57318320	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57767588	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57832687	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57845473	0.97[AFR][1000 genomes]
rs57904637	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57945325	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57992259	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58111601	0.90[AFR][1000 genomes]
rs58159136	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58495293	0.97[AFR][1000 genomes]
rs59991282	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60058520	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60353098	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60606954	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60632275	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60873852	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61358847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61586762	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934718	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934729	0.83[AMR][1000 genomes]
rs6936664	0.83[AMR][1000 genomes]
rs73244762	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244765	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244775	0.90[AFR][1000 genomes]
rs73244776	0.90[AFR][1000 genomes]
rs73244777	0.90[AFR][1000 genomes]
rs73244778	0.90[AFR][1000 genomes]
rs73244781	0.90[AFR][1000 genomes]
rs73244785	0.97[AFR][1000 genomes]
rs73244786	0.97[AFR][1000 genomes]
rs73244787	0.97[AFR][1000 genomes]
rs73244801	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246605	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246607	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246609	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246620	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246625	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246641	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246647	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246651	0.83[AMR][1000 genomes]
rs73246654	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246656	0.83[AMR][1000 genomes]
rs73246662	0.83[AMR][1000 genomes]
rs73246665	0.83[AMR][1000 genomes]
rs73246671	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246675	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246688	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246696	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246702	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784423	0.90[AFR][1000 genomes]
rs73784425	0.90[AFR][1000 genomes]
rs73784461	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784483	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9688570	0.83[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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163985000-164006800	Weak transcription	Spleen	Spleen
2	chr6:163986600-164007000	Weak transcription	Aorta	Aorta
3	chr6:163987600-164007000	Weak transcription	Hela-S3	cervix
4	chr6:163992200-164007200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:163992200-164007200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:163992200-164009000	Weak transcription	GM12878-XiMat	blood
7	chr6:163992400-164005800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:163992400-164007000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:163992400-164007800	Weak transcription	Lung	lung
10	chr6:163994000-164007200	Weak transcription	NHLF	lung
11	chr6:163994200-164006400	Weak transcription	A549	lung
12	chr6:163994200-164006400	Weak transcription	HUVEC	blood vessel
13	chr6:163994400-164006600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:163995200-164007200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:163995600-164006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:163996200-164007000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:163996200-164007200	Weak transcription	NHDF-Ad	bronchial
18	chr6:163997600-164006400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:163998000-164006200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr6:163998200-164010800	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:163998400-164007800	Enhancers	Brain Hippocampus Middle	brain
22	chr6:163998800-164009000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:164000000-164006600	Weak transcription	HSMM	muscle
24	chr6:164000400-164007200	Weak transcription	HSMMtube	muscle
25	chr6:164000600-164006200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:164000600-164007200	Weak transcription	Right Ventricle	heart
27	chr6:164000600-164007800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:164001600-164006400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:164001600-164006800	Weak transcription	Adipose Nuclei	Adipose
30	chr6:164001800-164006800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:164002200-164007000	Weak transcription	Brain Anterior Caudate	brain
32	chr6:164002800-164005800	Weak transcription	K562	blood
33	chr6:164003800-164005600	Weak transcription	Fetal Heart	heart
34	chr6:164003800-164010000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:164004600-164005600	Enhancers	Brain Angular Gyrus	brain
36	chr6:164005000-164006400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:164005200-164006400	Weak transcription	Left Ventricle	heart
38	chr6:164005200-164009600	Enhancers	Brain Substantia Nigra	brain
39	chr6:164005400-164005800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:164005400-164005800	Weak transcription	Psoas Muscle	Psoas
41	chr6:164005400-164006200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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