Variant report

Variant	rs16919526
Chromosome Location	chr8:54654239-54654240
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	chr8:54650208..54652519-chr8:54653816..54655343,2	MCF-7	breast:
2	chr8:54652211..54654707-chr8:54657866..54660858,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1483538	1.00[TSI][hapmap]
rs16919513	1.00[ASW][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919566	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919597	1.00[TSI][hapmap]
rs41360051	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56321533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57838567	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58446058	1.00[EUR][1000 genomes]
rs59122208	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59751066	1.00[EUR][1000 genomes]
rs61453862	1.00[EUR][1000 genomes]
rs6473892	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73680307	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73680313	1.00[EUR][1000 genomes]
rs73680318	1.00[EUR][1000 genomes]
rs73680324	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73682541	1.00[EUR][1000 genomes]
rs73682550	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682559	1.00[EUR][1000 genomes]
rs7845915	1.00[GIH][hapmap]

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	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54627400-54663400	Weak transcription	Hela-S3	cervix
2	chr8:54635000-54660200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:54641000-54654400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:54642600-54672800	Weak transcription	Right Ventricle	heart
5	chr8:54645200-54654800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:54645600-54654600	Weak transcription	HSMM	muscle
7	chr8:54645600-54654800	Weak transcription	Osteobl	bone
8	chr8:54645600-54655000	Weak transcription	NH-A	brain
9	chr8:54645600-54671400	Weak transcription	NHLF	lung
10	chr8:54646000-54672600	Weak transcription	Psoas Muscle	Psoas
11	chr8:54646800-54654400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:54647000-54654800	Weak transcription	Brain Angular Gyrus	brain
13	chr8:54647200-54666600	Weak transcription	Brain Substantia Nigra	brain
14	chr8:54647600-54654400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:54647600-54654800	Weak transcription	Fetal Kidney	kidney
16	chr8:54647600-54661600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:54647600-54666600	Weak transcription	A549	lung
18	chr8:54647800-54654800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:54647800-54654800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:54648600-54667200	Weak transcription	HSMMtube	muscle
21	chr8:54649800-54654400	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:54649800-54656000	Weak transcription	Fetal Stomach	stomach
23	chr8:54649800-54657200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:54650200-54654400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:54650200-54654400	Weak transcription	Esophagus	oesophagus
26	chr8:54650200-54654400	Weak transcription	Gastric	stomach
27	chr8:54650200-54654400	Weak transcription	Left Ventricle	heart
28	chr8:54650200-54654400	Weak transcription	Pancreas	Pancrea
29	chr8:54650200-54654400	Weak transcription	HepG2	liver
30	chr8:54650200-54654600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:54650200-54654600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:54650200-54654600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:54650200-54654800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:54650200-54654800	Weak transcription	Aorta	Aorta
35	chr8:54650200-54654800	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:54650200-54655000	Weak transcription	Fetal Brain Female	brain
37	chr8:54650200-54657000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:54650200-54657400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:54650200-54657600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:54650200-54661000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:54650200-54661200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr8:54650200-54661400	Weak transcription	Stomach Mucosa	stomach
43	chr8:54650200-54663400	Weak transcription	Brain Germinal Matrix	brain
44	chr8:54650200-54671000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
46	chr8:54650400-54655800	Weak transcription	NHDF-Ad	bronchial
47	chr8:54650800-54656800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:54651000-54654400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:54651000-54654400	Weak transcription	Fetal Thymus	thymus
50	chr8:54651000-54657400	Weak transcription	H1 Cell Line	embryonic stem cell

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