Variant report

Variant	rs17805905
Chromosome Location	chr18:29951538-29951539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29949594..29952442-chr18:30047301..30050702,3	MCF-7	breast:
2	chr18:29950469..29955579-chr18:30048383..30051595,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141441	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10502593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10502597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10502598	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10502599	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11660076	1.00[CEU][hapmap]
rs11661284	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11661378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11661757	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661767	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11663076	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11664951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11665544	1.00[CEU][hapmap]
rs11873828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11873865	0.83[JPT][hapmap]
rs11877846	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11877881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12052010	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1380086	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1458861	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs1689031	0.81[ASN][1000 genomes]
rs16962924	1.00[CEU][hapmap]
rs16962941	1.00[CEU][hapmap]
rs16962953	1.00[CEU][hapmap]
rs16962965	1.00[CEU][hapmap]
rs16962971	1.00[CEU][hapmap]
rs16962974	1.00[CEU][hapmap]
rs16962977	1.00[CEU][hapmap]
rs16963129	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16963184	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17743799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17743907	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17744164	1.00[CEU][hapmap]
rs17744182	0.83[EUR][1000 genomes]
rs17805881	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17811420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17811474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17811780	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs41535045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4462681	1.00[CEU][hapmap]
rs7236302	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7237059	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7241450	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243963	1.00[CEU][hapmap]
rs8086990	1.00[CEU][hapmap]
rs9953127	1.00[CEU][hapmap]
rs9960751	1.00[CEU][hapmap]
rs9962307	1.00[CEU][hapmap]

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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29930200-29953600	Weak transcription	Fetal Muscle Leg	muscle
2	chr18:29932800-29954000	Weak transcription	Ovary	ovary
3	chr18:29937600-29952600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:29939000-29952800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr18:29946200-29958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:29946800-29953600	Weak transcription	Colon Smooth Muscle	Colon
7	chr18:29946800-29959000	Weak transcription	Fetal Lung	lung
8	chr18:29947000-29952400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr18:29947000-29953800	Weak transcription	Fetal Kidney	kidney
10	chr18:29947200-29957200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:29947600-29951800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:29948200-29951600	Weak transcription	Right Ventricle	heart
13	chr18:29948200-29953400	Weak transcription	Gastric	stomach
14	chr18:29948200-29954000	Weak transcription	Aorta	Aorta
15	chr18:29948200-29954200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr18:29948400-29952400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:29948400-29952600	Weak transcription	Right Atrium	heart
18	chr18:29948400-29954200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr18:29948600-29951600	Weak transcription	Fetal Intestine Large	intestine
20	chr18:29948600-29952000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr18:29948600-29952400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:29948600-29953600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr18:29948800-29951600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr18:29948800-29952200	Weak transcription	Brain Anterior Caudate	brain
25	chr18:29949000-29951800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:29949200-29951600	Weak transcription	Brain Substantia Nigra	brain
27	chr18:29949200-29952400	Weak transcription	Brain Angular Gyrus	brain
28	chr18:29949400-29951600	Weak transcription	Brain Hippocampus Middle	brain
29	chr18:29950000-29966200	Weak transcription	Fetal Brain Female	brain
30	chr18:29950400-29952600	Weak transcription	Fetal Stomach	stomach
31	chr18:29950800-29951600	Enhancers	Hela-S3	cervix
32	chr18:29950800-29956200	Enhancers	Stomach Mucosa	stomach
33	chr18:29951000-29951800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr18:29951000-29951800	Enhancers	Liver	Liver
35	chr18:29951000-29951800	Enhancers	Esophagus	oesophagus
36	chr18:29951000-29951800	Enhancers	Lung	lung
37	chr18:29951000-29951800	Enhancers	Pancreas	Pancrea
38	chr18:29951000-29951800	Enhancers	Psoas Muscle	Psoas
39	chr18:29951000-29951800	Enhancers	Small Intestine	intestine
40	chr18:29951000-29951800	Enhancers	A549	lung
41	chr18:29951000-29952000	Enhancers	Colonic Mucosa	Colon
42	chr18:29951000-29952000	Enhancers	Placenta	Placenta
43	chr18:29951000-29952200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr18:29951000-29953600	Enhancers	Left Ventricle	heart
45	chr18:29951000-29954400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr18:29951000-29954600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr18:29951000-29955400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr18:29951000-29956000	Enhancers	Fetal Heart	heart
49	chr18:29951000-29956200	Enhancers	Duodenum Mucosa	Duodenum
50	chr18:29951200-29951600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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