Variant report

Variant	rs583065
Chromosome Location	chr18:29891593-29891594
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29854965..29857562-chr18:29891190..29893119,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs583079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs614014	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs620723	0.84[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs629116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642914	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs649408	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs660031	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs672867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs677137	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs682827	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs683701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688824	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][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	nsv1056007	chr18:29711974-29899564	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv576639	chr18:29888660-29891593	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29868200-29923800	Weak transcription	Gastric	stomach
2	chr18:29878400-29896000	Weak transcription	Brain Anterior Caudate	brain
3	chr18:29880800-29897000	Weak transcription	Lung	lung
4	chr18:29881600-29892200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr18:29883000-29891600	Weak transcription	Pancreas	Pancrea
6	chr18:29883000-29895800	Weak transcription	Stomach Mucosa	stomach
7	chr18:29883000-29897000	Weak transcription	Fetal Intestine Small	intestine
8	chr18:29883000-29897000	Weak transcription	Left Ventricle	heart
9	chr18:29883400-29896800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:29883800-29893000	Weak transcription	Fetal Heart	heart
11	chr18:29886600-29892000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:29889000-29891600	Enhancers	Fetal Muscle Leg	muscle
13	chr18:29889200-29891600	Weak transcription	Right Ventricle	heart
14	chr18:29889200-29892400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr18:29889200-29893000	Weak transcription	Small Intestine	intestine
16	chr18:29889200-29896800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr18:29889400-29891800	Weak transcription	Right Atrium	heart
18	chr18:29889400-29892600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:29889400-29895600	Weak transcription	HSMM	muscle
20	chr18:29889400-29895800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:29889400-29896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:29889400-29896400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:29889400-29896400	Weak transcription	Aorta	Aorta
24	chr18:29889400-29904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:29889600-29891600	Weak transcription	Fetal Intestine Large	intestine
26	chr18:29889600-29895600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr18:29890200-29891600	Enhancers	Brain Substantia Nigra	brain
28	chr18:29890200-29898800	Weak transcription	Liver	Liver
29	chr18:29890200-29902200	Weak transcription	Spleen	Spleen
30	chr18:29890400-29895600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr18:29890400-29895800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:29890400-29895800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr18:29890400-29897000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr18:29890400-29897000	Weak transcription	NH-A	brain
35	chr18:29890400-29904000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr18:29890800-29891800	Enhancers	Fetal Muscle Trunk	muscle
37	chr18:29890800-29896800	Weak transcription	Fetal Stomach	stomach
38	chr18:29891000-29892600	Weak transcription	Ovary	ovary
39	chr18:29891000-29896400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:29891000-29896800	Weak transcription	Brain Angular Gyrus	brain
41	chr18:29891000-29897400	Weak transcription	Fetal Kidney	kidney
42	chr18:29891000-29898400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr18:29891000-29905800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr18:29891000-29914000	Weak transcription	Fetal Brain Female	brain
45	chr18:29891200-29892200	Weak transcription	Brain Hippocampus Middle	brain
46	chr18:29891200-29896800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:29891200-29905600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr18:29891400-29891600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
49	chr18:29891400-29892200	Strong transcription	Adipose Nuclei	Adipose

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