Variant report

Variant	rs1689031
Chromosome Location	chr18:29930125-29930126
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11661757	0.81[ASN][1000 genomes]
rs11661767	0.81[ASN][1000 genomes]
rs16963184	0.90[ASN][1000 genomes]
rs17805881	0.81[ASN][1000 genomes]
rs17805905	0.81[ASN][1000 genomes]
rs41535045	0.81[ASN][1000 genomes]
rs7241450	0.81[ASN][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29920000-29930200	Weak transcription	Stomach Mucosa	stomach
2	chr18:29921600-29938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:29924000-29930800	Enhancers	Brain Anterior Caudate	brain
4	chr18:29924200-29936800	Weak transcription	Pancreas	Pancrea
5	chr18:29924200-29937000	Weak transcription	Left Ventricle	heart
6	chr18:29925000-29930600	Enhancers	Brain Cingulate Gyrus	brain
7	chr18:29926800-29951000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr18:29927200-29936800	Weak transcription	Psoas Muscle	Psoas
9	chr18:29927600-29930200	Enhancers	Fetal Brain Male	brain
10	chr18:29927800-29938200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:29928200-29932000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr18:29928800-29931200	Enhancers	Brain Angular Gyrus	brain
13	chr18:29928800-29933000	Enhancers	Colon Smooth Muscle	Colon
14	chr18:29929000-29931200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:29929000-29931600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr18:29929000-29932400	Enhancers	Rectal Smooth Muscle	rectum
17	chr18:29929000-29933600	Enhancers	Fetal Kidney	kidney
18	chr18:29929200-29930400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:29929200-29930600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:29929200-29931200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr18:29929200-29931600	Enhancers	HSMM	muscle
22	chr18:29929400-29930400	Flanking Active TSS	NH-A	brain
23	chr18:29929400-29930600	Enhancers	Brain Substantia Nigra	brain
24	chr18:29929600-29930200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr18:29929600-29930200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:29929600-29930200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr18:29929600-29930200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:29929600-29930200	Enhancers	Fetal Intestine Large	intestine
29	chr18:29929600-29930200	Enhancers	Fetal Intestine Small	intestine
30	chr18:29929600-29930200	Flanking Active TSS	Hela-S3	cervix
31	chr18:29929600-29930400	Enhancers	HepG2	liver
32	chr18:29929600-29930600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr18:29929600-29930600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:29929600-29930600	Enhancers	Adipose Nuclei	Adipose
35	chr18:29929600-29930800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:29929600-29930800	Active TSS	Aorta	Aorta
37	chr18:29929600-29931400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr18:29929600-29931600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr18:29929800-29930200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:29929800-29930200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr18:29929800-29930200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:29929800-29930200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:29929800-29930200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr18:29929800-29930200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr18:29929800-29930200	Active TSS	Fetal Muscle Leg	muscle
46	chr18:29929800-29930200	Active TSS	Ovary	ovary
47	chr18:29929800-29930200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr18:29929800-29930200	Active TSS	Right Ventricle	heart
49	chr18:29929800-29930200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr18:29929800-29930200	Active TSS	Stomach Smooth Muscle	stomach

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