Variant report

Variant	rs1689030
Chromosome Location	chr18:29912990-29912991
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	chr18:29912040..29915183-chr18:29916652..29919648,4	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1037753	0.94[JPT][hapmap]
rs16963287	0.88[JPT][hapmap]
rs2421462	0.84[JPT][hapmap]
rs4530209	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs594344	0.86[YRI][hapmap]
rs595792	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs598074	0.81[ASN][1000 genomes]
rs606638	0.84[AFR][1000 genomes]
rs616601	0.94[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs618004	0.94[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs625361	0.94[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs638142	0.94[CEU][hapmap]
rs638868	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs644274	0.84[AFR][1000 genomes]
rs656946	0.94[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs657479	0.93[CEU][hapmap]
rs668857	0.94[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs677721	0.80[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs681347	0.82[CEU][hapmap]
rs686196	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7239218	0.91[AMR][1000 genomes];0.87[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:45 , 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	chr18:29897400-29923800	Weak transcription	Esophagus	oesophagus
6	chr18:29897400-29923800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr18:29898000-29918600	Weak transcription	Fetal Intestine Small	intestine
8	chr18:29898200-29915400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:29903400-29915800	Weak transcription	Fetal Brain Male	brain
10	chr18:29904200-29913200	Weak transcription	Pancreas	Pancrea
11	chr18:29904200-29913800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr18:29904200-29915200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:29904400-29930000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr18:29904600-29917200	Weak transcription	HMEC	breast
15	chr18:29906800-29915200	Weak transcription	Adipose Nuclei	Adipose
16	chr18:29906800-29917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:29906800-29922200	Weak transcription	Ovary	ovary
18	chr18:29906800-29923800	Weak transcription	Right Atrium	heart
19	chr18:29907000-29913400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr18:29907000-29914400	Weak transcription	Fetal Muscle Leg	muscle
21	chr18:29907000-29914600	Weak transcription	Fetal Kidney	kidney
22	chr18:29907800-29914800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:29907800-29921800	Weak transcription	Liver	Liver
24	chr18:29908000-29914000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr18:29908800-29913600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:29909000-29914800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr18:29909000-29917800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr18:29909200-29913800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:29909200-29917600	Weak transcription	Stomach Mucosa	stomach
30	chr18:29910600-29929800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr18:29911600-29915400	Enhancers	Fetal Heart	heart
32	chr18:29911800-29914000	Enhancers	Left Ventricle	heart
33	chr18:29911800-29916000	Enhancers	Brain Cingulate Gyrus	brain
34	chr18:29912000-29913600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr18:29912000-29918600	Weak transcription	Small Intestine	intestine
36	chr18:29912200-29914800	Weak transcription	Spleen	Spleen
37	chr18:29912200-29916000	Enhancers	Brain Hippocampus Middle	brain
38	chr18:29912400-29914000	Enhancers	Right Ventricle	heart
39	chr18:29912600-29913400	Enhancers	Psoas Muscle	Psoas
40	chr18:29912600-29914200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr18:29912800-29913000	Weak transcription	Brain Substantia Nigra	brain
42	chr18:29912800-29913200	Weak transcription	Aorta	Aorta
43	chr18:29912800-29916000	Enhancers	Brain Angular Gyrus	brain
44	chr18:29912800-29918000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr18:29912800-29923800	Weak transcription	Lung	lung

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