Variant report

Variant	rs9963594
Chromosome Location	chr18:11753992-11753993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10468679	1.00[ASN][1000 genomes]
rs10468682	1.00[ASN][1000 genomes]
rs10502413	1.00[ASN][1000 genomes]
rs11872939	1.00[ASN][1000 genomes]
rs12373424	1.00[ASN][1000 genomes]
rs12457247	1.00[ASN][1000 genomes]
rs1424913	1.00[ASN][1000 genomes]
rs1559579	1.00[ASN][1000 genomes]
rs16976625	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976628	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976639	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976666	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976687	1.00[ASN][1000 genomes]
rs1834267	1.00[ASN][1000 genomes]
rs1941225	1.00[ASN][1000 genomes]
rs28666369	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688137	1.00[ASN][1000 genomes]
rs28696966	1.00[ASN][1000 genomes]
rs56314648	1.00[ASN][1000 genomes]
rs56819096	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56861220	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57485078	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57491632	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57878458	1.00[ASN][1000 genomes]
rs57958293	1.00[ASN][1000 genomes]
rs58144032	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58248860	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58273499	1.00[ASN][1000 genomes]
rs58296571	1.00[ASN][1000 genomes]
rs58471713	1.00[ASN][1000 genomes]
rs58617475	1.00[ASN][1000 genomes]
rs58829911	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58991912	1.00[ASN][1000 genomes]
rs59099814	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59286339	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59322585	1.00[ASN][1000 genomes]
rs59455765	1.00[ASN][1000 genomes]
rs59549445	1.00[ASN][1000 genomes]
rs59624432	1.00[ASN][1000 genomes]
rs59870994	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59893403	1.00[ASN][1000 genomes]
rs59920321	1.00[ASN][1000 genomes]
rs60036326	1.00[ASN][1000 genomes]
rs60590666	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61076914	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505675	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7227117	1.00[ASN][1000 genomes]
rs7227259	1.00[ASN][1000 genomes]
rs73397831	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397852	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397857	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397859	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397874	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399817	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399822	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399842	1.00[ASN][1000 genomes]
rs73401824	1.00[ASN][1000 genomes]
rs73401826	1.00[ASN][1000 genomes]
rs73401832	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401838	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401844	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403525	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403531	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403540	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403565	1.00[ASN][1000 genomes]
rs73403569	1.00[ASN][1000 genomes]
rs73403571	1.00[ASN][1000 genomes]
rs73405491	1.00[ASN][1000 genomes]
rs73405493	1.00[ASN][1000 genomes]
rs73407408	1.00[ASN][1000 genomes]
rs73407416	1.00[ASN][1000 genomes]
rs73407420	1.00[ASN][1000 genomes]
rs73407440	1.00[ASN][1000 genomes]
rs787556	1.00[ASN][1000 genomes]
rs8085783	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089494	1.00[ASN][1000 genomes]
rs8095571	1.00[ASN][1000 genomes]
rs8095793	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098587	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099026	1.00[ASN][1000 genomes]
rs8099153	1.00[ASN][1000 genomes]
rs9303743	1.00[ASN][1000 genomes]
rs9303752	1.00[ASN][1000 genomes]
rs9646452	1.00[ASN][1000 genomes]
rs9675502	1.00[ASN][1000 genomes]
rs9675734	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9675736	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9675750	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676233	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676238	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946157	1.00[ASN][1000 genomes]
rs9946455	1.00[ASN][1000 genomes]
rs9948287	1.00[ASN][1000 genomes]
rs9954486	1.00[ASN][1000 genomes]
rs9960175	1.00[ASN][1000 genomes]
rs9962057	1.00[ASN][1000 genomes]
rs9967080	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11751600-11756200	Active TSS	Brain Anterior Caudate	brain
2	chr18:11752400-11754800	Active TSS	Brain Hippocampus Middle	brain
3	chr18:11752800-11767200	Weak transcription	Aorta	Aorta
4	chr18:11752800-11774000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:11753000-11757200	Weak transcription	Pancreas	Pancrea
6	chr18:11753000-11759400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:11753000-11760800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:11753000-11760800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr18:11753000-11767200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:11753000-11767200	Weak transcription	Esophagus	oesophagus
11	chr18:11753000-11768000	Weak transcription	HMEC	breast
12	chr18:11753000-11774800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr18:11753000-11775400	Weak transcription	Gastric	stomach
14	chr18:11753200-11754000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr18:11753200-11755600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr18:11753600-11754000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:11753600-11754800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:11753800-11754000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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