Variant report

Variant	rs60949633
Chromosome Location	chr18:29907616-29907617
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10502591	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10502594	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11081757	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872811	1.00[EUR][1000 genomes]
rs11874036	1.00[EUR][1000 genomes]
rs11876823	1.00[EUR][1000 genomes]
rs16963314	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16963353	0.84[ASN][1000 genomes]
rs16963360	0.84[ASN][1000 genomes]
rs16963365	0.84[ASN][1000 genomes]
rs17736440	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17736489	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1841119	1.00[EUR][1000 genomes]
rs3073261	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55730180	0.84[ASN][1000 genomes]
rs55861080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55976613	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57230958	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57546420	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58435646	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58863502	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59340191	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59452754	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59630704	0.81[ASN][1000 genomes]
rs60154857	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60214917	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73954806	0.84[ASN][1000 genomes]
rs73954807	0.84[ASN][1000 genomes]
rs73956875	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73956877	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73956878	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73956881	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73956882	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73956890	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73956898	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73958413	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73958418	0.84[ASN][1000 genomes]
rs73958422	0.82[AMR][1000 genomes];0.84[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29868200-29923800	Weak transcription	Gastric	stomach
2	chr18:29891000-29914000	Weak transcription	Fetal Brain Female	brain
3	chr18:29897200-29918800	Weak transcription	Fetal Intestine Large	intestine
4	chr18:29897200-29926400	Weak transcription	Fetal Stomach	stomach
5	chr18:29897400-29909000	Weak transcription	Left Ventricle	heart
6	chr18:29897400-29923800	Weak transcription	Esophagus	oesophagus
7	chr18:29897400-29923800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr18:29898000-29918600	Weak transcription	Fetal Intestine Small	intestine
9	chr18:29898200-29915400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:29899800-29908400	Weak transcription	Stomach Mucosa	stomach
11	chr18:29903400-29915800	Weak transcription	Fetal Brain Male	brain
12	chr18:29904200-29913200	Weak transcription	Pancreas	Pancrea
13	chr18:29904200-29913800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr18:29904200-29915200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:29904400-29930000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr18:29904600-29917200	Weak transcription	HMEC	breast
17	chr18:29905000-29908800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:29905400-29907800	Enhancers	Brain Anterior Caudate	brain
19	chr18:29905400-29907800	Enhancers	Brain Cingulate Gyrus	brain
20	chr18:29905400-29908200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr18:29905600-29907800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:29905600-29907800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr18:29905600-29907800	Enhancers	Brain Substantia Nigra	brain
24	chr18:29905600-29907800	Enhancers	Rectal Smooth Muscle	rectum
25	chr18:29905800-29907800	Enhancers	Liver	Liver
26	chr18:29906200-29908800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:29906200-29909000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr18:29906200-29909200	Enhancers	Osteobl	bone
29	chr18:29906400-29907800	Enhancers	NH-A	brain
30	chr18:29906400-29908600	Enhancers	HSMM	muscle
31	chr18:29906400-29908800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:29906400-29909200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:29906600-29907800	Enhancers	Brain Angular Gyrus	brain
34	chr18:29906600-29907800	Enhancers	Fetal Lung	lung
35	chr18:29906800-29908000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:29906800-29908600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:29906800-29912600	Weak transcription	Psoas Muscle	Psoas
38	chr18:29906800-29915200	Weak transcription	Adipose Nuclei	Adipose
39	chr18:29906800-29917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr18:29906800-29922200	Weak transcription	Ovary	ovary
41	chr18:29906800-29923800	Weak transcription	Right Atrium	heart
42	chr18:29907000-29908000	Enhancers	Stomach Smooth Muscle	stomach
43	chr18:29907000-29908200	Weak transcription	HSMMtube	muscle
44	chr18:29907000-29908600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr18:29907000-29911600	Weak transcription	Fetal Heart	heart
46	chr18:29907000-29911800	Weak transcription	Right Ventricle	heart
47	chr18:29907000-29913400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr18:29907000-29914400	Weak transcription	Fetal Muscle Leg	muscle
49	chr18:29907000-29914600	Weak transcription	Fetal Kidney	kidney
50	chr18:29907200-29908200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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