Variant report

Variant	rs9951044
Chromosome Location	chr18:29928622-29928623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11081766	1.00[EUR][1000 genomes]
rs28360758	1.00[EUR][1000 genomes]
rs28405812	0.87[AFR][1000 genomes]
rs28545765	1.00[EUR][1000 genomes]
rs28584588	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7242846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421974	1.00[EUR][1000 genomes]
rs8097937	1.00[EUR][1000 genomes]
rs9948201	1.00[EUR][1000 genomes]
rs9949349	1.00[EUR][1000 genomes]
rs9963014	1.00[EUR][1000 genomes]
rs9963404	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29904400-29930000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:29910600-29929800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:29915600-29929600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr18:29920000-29930200	Weak transcription	Stomach Mucosa	stomach
5	chr18:29921600-29938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:29922600-29929600	Weak transcription	Fetal Intestine Small	intestine
7	chr18:29922600-29929800	Weak transcription	Fetal Heart	heart
8	chr18:29924000-29929800	Weak transcription	Esophagus	oesophagus
9	chr18:29924000-29930800	Enhancers	Brain Anterior Caudate	brain
10	chr18:29924200-29929800	Weak transcription	Fetal Muscle Leg	muscle
11	chr18:29924200-29936800	Weak transcription	Pancreas	Pancrea
12	chr18:29924200-29937000	Weak transcription	Left Ventricle	heart
13	chr18:29924400-29929600	Weak transcription	Liver	Liver
14	chr18:29924400-29929800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr18:29925000-29930600	Enhancers	Brain Cingulate Gyrus	brain
16	chr18:29926800-29929000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:29926800-29929600	Weak transcription	Fetal Stomach	stomach
18	chr18:29926800-29951000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr18:29927000-29929000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr18:29927000-29929000	Weak transcription	NH-A	brain
21	chr18:29927000-29929200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr18:29927000-29929200	Weak transcription	Osteobl	bone
23	chr18:29927000-29929600	Weak transcription	Aorta	Aorta
24	chr18:29927000-29929800	Weak transcription	Ovary	ovary
25	chr18:29927000-29929800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr18:29927200-29929000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr18:29927200-29929600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr18:29927200-29929600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:29927200-29929600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:29927200-29936800	Weak transcription	Psoas Muscle	Psoas
31	chr18:29927400-29929000	Weak transcription	Fetal Kidney	kidney
32	chr18:29927600-29929000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:29927600-29929000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr18:29927600-29929600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:29927600-29929600	Weak transcription	Adipose Nuclei	Adipose
36	chr18:29927600-29930200	Enhancers	Fetal Brain Male	brain
37	chr18:29927800-29929600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:29927800-29929600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr18:29927800-29938200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr18:29928000-29929000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:29928000-29929000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:29928000-29929000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr18:29928000-29929200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr18:29928000-29929600	Weak transcription	Fetal Intestine Large	intestine
45	chr18:29928000-29929600	Weak transcription	Fetal Lung	lung
46	chr18:29928200-29929800	Weak transcription	Brain Hippocampus Middle	brain
47	chr18:29928200-29932000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr18:29928400-29928800	Weak transcription	Brain Angular Gyrus	brain
49	chr18:29928400-29928800	Weak transcription	Colon Smooth Muscle	Colon
50	chr18:29928400-29929400	Weak transcription	Brain Substantia Nigra	brain

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