Variant report

Variant	rs644274
Chromosome Location	chr18:29897165-29897166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29896360..29897935-chr18:29901825..29904220,2	K562	blood:
2	chr18:29895037..29897248-chr18:29897872..29900366,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1689030	0.84[AFR][1000 genomes]
rs598074	0.93[EUR][1000 genomes]
rs606638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616601	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618004	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs619154	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs625361	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs638142	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643836	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs656946	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657479	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs668857	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671090	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs677721	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681347	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs687850	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8084215	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29868200-29923800	Weak transcription	Gastric	stomach
2	chr18:29889400-29904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:29890200-29898800	Weak transcription	Liver	Liver
4	chr18:29890200-29902200	Weak transcription	Spleen	Spleen
5	chr18:29890400-29904000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:29891000-29897400	Weak transcription	Fetal Kidney	kidney
7	chr18:29891000-29898400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr18:29891000-29905800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr18:29891000-29914000	Weak transcription	Fetal Brain Female	brain
10	chr18:29891200-29905600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr18:29893400-29897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:29893400-29897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:29893400-29903200	Weak transcription	Pancreas	Pancrea
14	chr18:29894200-29897800	Weak transcription	Small Intestine	intestine
15	chr18:29895600-29897600	Enhancers	HSMM	muscle
16	chr18:29895800-29897400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:29895800-29897800	Enhancers	Stomach Mucosa	stomach
18	chr18:29895800-29898600	Enhancers	Brain Cingulate Gyrus	brain
19	chr18:29895800-29898800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:29895800-29898800	Enhancers	Osteobl	bone
21	chr18:29896000-29899200	Enhancers	Brain Substantia Nigra	brain
22	chr18:29896200-29898400	Weak transcription	Fetal Heart	heart
23	chr18:29896400-29897200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:29896400-29897200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:29896400-29897200	Enhancers	Fetal Muscle Trunk	muscle
26	chr18:29896400-29897400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:29896400-29897400	Enhancers	Ovary	ovary
28	chr18:29896400-29899200	Enhancers	Fetal Muscle Leg	muscle
29	chr18:29896600-29897200	Enhancers	Psoas Muscle	Psoas
30	chr18:29896600-29897200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr18:29896600-29900000	Enhancers	Adipose Nuclei	Adipose
32	chr18:29896800-29897200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:29896800-29897200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr18:29896800-29897200	Enhancers	Fetal Stomach	stomach
35	chr18:29896800-29897200	Enhancers	Right Ventricle	heart
36	chr18:29896800-29897200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr18:29896800-29897400	Enhancers	Esophagus	oesophagus
38	chr18:29896800-29897400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr18:29896800-29898000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:29896800-29898000	Enhancers	Brain Angular Gyrus	brain
41	chr18:29896800-29898000	Enhancers	Hela-S3	cervix
42	chr18:29896800-29898400	Enhancers	Brain Anterior Caudate	brain
43	chr18:29896800-29899800	Enhancers	HepG2	liver
44	chr18:29897000-29897200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:29897000-29897200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr18:29897000-29897200	Enhancers	Fetal Intestine Large	intestine
47	chr18:29897000-29897400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:29897000-29897400	Weak transcription	Brain Hippocampus Middle	brain
49	chr18:29897000-29897400	Enhancers	Left Ventricle	heart
50	chr18:29897000-29897400	Enhancers	Lung	lung

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