Variant report

Variant	rs594344
Chromosome Location	chr18:29908095-29908096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1661817	0.83[TSI][hapmap]
rs1689029	0.83[TSI][hapmap]
rs1689030	0.86[YRI][hapmap]
rs583065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs583079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs614014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616601	0.86[YRI][hapmap]
rs618004	0.92[MKK][hapmap];0.86[YRI][hapmap]
rs620723	0.85[CEU][hapmap];0.93[EUR][1000 genomes]
rs625361	0.86[YRI][hapmap]
rs629116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs632368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636391	0.83[TSI][hapmap]
rs642914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656946	0.83[MKK][hapmap];0.86[YRI][hapmap]
rs660031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668857	0.82[MKK][hapmap];0.86[YRI][hapmap]
rs672867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677137	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677721	0.86[YRI][hapmap];0.80[AFR][1000 genomes]
rs682827	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs686196	0.82[MKK][hapmap]
rs688824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.89[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:50 , 50 per page) page: 1

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	chr18:29905400-29908200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr18:29906200-29908800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:29906200-29909000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr18:29906200-29909200	Enhancers	Osteobl	bone
22	chr18:29906400-29908600	Enhancers	HSMM	muscle
23	chr18:29906400-29908800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:29906400-29909200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:29906800-29908600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr18:29906800-29912600	Weak transcription	Psoas Muscle	Psoas
27	chr18:29906800-29915200	Weak transcription	Adipose Nuclei	Adipose
28	chr18:29906800-29917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:29906800-29922200	Weak transcription	Ovary	ovary
30	chr18:29906800-29923800	Weak transcription	Right Atrium	heart
31	chr18:29907000-29908200	Weak transcription	HSMMtube	muscle
32	chr18:29907000-29908600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr18:29907000-29911600	Weak transcription	Fetal Heart	heart
34	chr18:29907000-29911800	Weak transcription	Right Ventricle	heart
35	chr18:29907000-29913400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr18:29907000-29914400	Weak transcription	Fetal Muscle Leg	muscle
37	chr18:29907000-29914600	Weak transcription	Fetal Kidney	kidney
38	chr18:29907200-29908200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:29907200-29908200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr18:29907400-29908600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr18:29907400-29909000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr18:29907400-29909000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr18:29907600-29908600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr18:29907600-29912200	Weak transcription	Brain Hippocampus Middle	brain
45	chr18:29907800-29908400	Weak transcription	Brain Angular Gyrus	brain
46	chr18:29907800-29911800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr18:29907800-29911800	Weak transcription	Brain Substantia Nigra	brain
48	chr18:29907800-29914800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr18:29907800-29921800	Weak transcription	Liver	Liver
50	chr18:29908000-29914000	Weak transcription	Stomach Smooth Muscle	stomach

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