Variant report

Variant	rs8084215
Chromosome Location	chr18:29895400-29895401
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	chr18:29895037..29897248-chr18:29897872..29900366,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs598074	0.88[EUR][1000 genomes]
rs606638	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616601	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618004	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs619154	0.85[ASN][1000 genomes]
rs625361	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs638142	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643836	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs644274	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656946	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657479	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs668857	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671090	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs677721	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681347	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs687850	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:48 , 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	chr18:29883000-29895800	Weak transcription	Stomach Mucosa	stomach
5	chr18:29883000-29897000	Weak transcription	Fetal Intestine Small	intestine
6	chr18:29883000-29897000	Weak transcription	Left Ventricle	heart
7	chr18:29883400-29896800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr18:29889200-29896800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr18:29889400-29895600	Weak transcription	HSMM	muscle
10	chr18:29889400-29895800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:29889400-29896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:29889400-29896400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:29889400-29896400	Weak transcription	Aorta	Aorta
14	chr18:29889400-29904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:29889600-29895600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:29890200-29898800	Weak transcription	Liver	Liver
17	chr18:29890200-29902200	Weak transcription	Spleen	Spleen
18	chr18:29890400-29895600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr18:29890400-29895800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr18:29890400-29895800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr18:29890400-29897000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr18:29890400-29897000	Weak transcription	NH-A	brain
23	chr18:29890400-29904000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr18:29890800-29896800	Weak transcription	Fetal Stomach	stomach
25	chr18:29891000-29896400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:29891000-29896800	Weak transcription	Brain Angular Gyrus	brain
27	chr18:29891000-29897400	Weak transcription	Fetal Kidney	kidney
28	chr18:29891000-29898400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr18:29891000-29905800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr18:29891000-29914000	Weak transcription	Fetal Brain Female	brain
31	chr18:29891200-29896800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:29891200-29905600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr18:29891600-29896000	Weak transcription	Brain Substantia Nigra	brain
34	chr18:29891800-29896400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr18:29892200-29896600	Weak transcription	Adipose Nuclei	Adipose
36	chr18:29892400-29897000	Weak transcription	Fetal Intestine Large	intestine
37	chr18:29892800-29896800	Weak transcription	Right Ventricle	heart
38	chr18:29893200-29896400	Weak transcription	Fetal Muscle Leg	muscle
39	chr18:29893200-29896400	Weak transcription	Ovary	ovary
40	chr18:29893200-29896800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:29893200-29896800	Weak transcription	Brain Hippocampus Middle	brain
42	chr18:29893200-29897000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr18:29893400-29895600	Weak transcription	Fetal Heart	heart
44	chr18:29893400-29896000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr18:29893400-29897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr18:29893400-29897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:29893400-29903200	Weak transcription	Pancreas	Pancrea
48	chr18:29894200-29897800	Weak transcription	Small Intestine	intestine

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