Variant report

Variant	rs28457840
Chromosome Location	chr18:43654334-43654335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43653881..43655599-chr18:43657132..43659332,2	K562	blood:
2	chr18:43553938..43554665-chr18:43653434..43654381,2	MCF-7	breast:
3	chr18:43244763..43245742-chr18:43653653..43654356,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11082509	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082510	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11659357	0.89[EUR][1000 genomes]
rs11659478	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11659795	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11661945	0.82[EUR][1000 genomes]
rs11664764	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11872954	0.84[EUR][1000 genomes]
rs11872985	0.84[EUR][1000 genomes]
rs11874712	0.85[EUR][1000 genomes]
rs12954944	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13381709	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800637	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800639	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800640	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2298787	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28504655	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28699609	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34907121	0.88[EUR][1000 genomes]
rs35507656	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765636	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56075249	0.90[EUR][1000 genomes]
rs56181324	0.90[EUR][1000 genomes]
rs62096500	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7230064	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7235373	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244921	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7244950	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8083998	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8085444	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8085743	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088881	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8089150	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8091452	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8092674	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8093880	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8094902	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8095031	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8095608	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8097521	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9304326	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304327	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304328	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9783884	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783887	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783888	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9944637	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9944659	0.86[ASN][1000 genomes]
rs9945606	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9945751	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9947908	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9954278	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9961065	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9962380	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9962458	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43651400-43657400	Weak transcription	A549	lung
2	chr18:43651600-43657600	Weak transcription	Dnd41	blood
3	chr18:43652200-43659600	Weak transcription	Small Intestine	intestine
4	chr18:43652600-43656800	Weak transcription	NHEK	skin
5	chr18:43652600-43657000	Weak transcription	GM12878-XiMat	blood
6	chr18:43652600-43657400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:43652600-43657400	Weak transcription	Brain Anterior Caudate	brain
8	chr18:43652600-43657400	Weak transcription	Thymus	Thymus
9	chr18:43652600-43657400	Weak transcription	HSMMtube	muscle
10	chr18:43652600-43657600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:43652600-43657600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:43652600-43657600	Weak transcription	Brain Substantia Nigra	brain
13	chr18:43652600-43657600	Weak transcription	Right Atrium	heart
14	chr18:43652600-43657600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr18:43652600-43657800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:43652600-43660000	Weak transcription	Brain Angular Gyrus	brain
17	chr18:43652600-43662200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:43652600-43662600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr18:43652600-43663000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:43652600-43663200	Weak transcription	Esophagus	oesophagus
21	chr18:43652600-43665000	Weak transcription	Aorta	Aorta
22	chr18:43652800-43654600	Enhancers	Liver	Liver
23	chr18:43652800-43656200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:43652800-43657200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:43652800-43657400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:43652800-43657400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:43652800-43657400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr18:43652800-43657600	Weak transcription	Brain Hippocampus Middle	brain
29	chr18:43652800-43657800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:43652800-43659000	Weak transcription	HUVEC	blood vessel
31	chr18:43652800-43659400	Weak transcription	Hela-S3	cervix
32	chr18:43652800-43662600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr18:43652800-43664000	Weak transcription	K562	blood
34	chr18:43653000-43656800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr18:43653000-43657400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:43653000-43657400	Weak transcription	Placenta	Placenta
37	chr18:43653000-43657600	Weak transcription	Fetal Intestine Small	intestine
38	chr18:43653000-43658800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr18:43653000-43659000	Weak transcription	Fetal Intestine Large	intestine
40	chr18:43653000-43662600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr18:43653000-43663000	Weak transcription	Fetal Brain Male	brain
42	chr18:43653200-43654600	Weak transcription	Fetal Stomach	stomach
43	chr18:43653200-43659200	Weak transcription	NHDF-Ad	bronchial
44	chr18:43653200-43663200	Weak transcription	Psoas Muscle	Psoas
45	chr18:43653400-43654400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr18:43653400-43657200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr18:43653400-43657200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr18:43653400-43663800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr18:43653600-43655400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr18:43653600-43656800	Weak transcription	Fetal Heart	heart

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