Variant report

Variant	rs496875
Chromosome Location	chr11:104918695-104918696
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:104917668-104918768	HUVEC	blood vessel:	n/a	chr11:104918680-104918692 chr11:104918128-104918135 chr11:104917968-104917978 chr11:104917967-104917979 chr11:104917968-104917978 chr11:104918127-104918135 chr11:104918125-104918136 chr11:104917969-104917977

Variant related genes	Relation type
CARD16	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1503391	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1699089	0.97[EUR][1000 genomes]
rs1699090	0.97[EUR][1000 genomes]
rs17103597	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1792749	0.97[EUR][1000 genomes]
rs473549	0.97[EUR][1000 genomes]
rs476889	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs481736	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs483345	0.97[EUR][1000 genomes]
rs486537	0.97[EUR][1000 genomes]
rs486576	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs486641	0.97[EUR][1000 genomes]
rs489715	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs490565	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs492366	0.94[EUR][1000 genomes]
rs492859	0.96[EUR][1000 genomes]
rs493426	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs497638	0.96[EUR][1000 genomes]
rs498892	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs500577	0.97[EUR][1000 genomes]
rs501192	0.97[EUR][1000 genomes]
rs501394	0.97[EUR][1000 genomes]
rs501429	0.97[EUR][1000 genomes]
rs503153	0.97[EUR][1000 genomes]
rs504054	0.97[EUR][1000 genomes]
rs505901	0.97[EUR][1000 genomes]
rs507438	0.95[EUR][1000 genomes]
rs507509	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs516255	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs516286	0.97[EUR][1000 genomes]
rs517736	0.97[EUR][1000 genomes]
rs518878	0.97[EUR][1000 genomes]
rs518993	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs519047	0.97[EUR][1000 genomes]
rs524048	0.96[EUR][1000 genomes]
rs528076	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs531542	0.97[EUR][1000 genomes]
rs533050	0.96[EUR][1000 genomes]
rs534338	0.97[EUR][1000 genomes]
rs534811	0.97[EUR][1000 genomes]
rs536909	0.95[EUR][1000 genomes]
rs538984	0.97[EUR][1000 genomes]
rs539595	0.97[EUR][1000 genomes]
rs542571	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs542774	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs546210	0.97[EUR][1000 genomes]
rs546449	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs554344	0.97[EUR][1000 genomes]
rs557905	0.97[EUR][1000 genomes]
rs558315	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs560880	0.97[EUR][1000 genomes]
rs568910	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs572031	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs572687	0.97[EUR][1000 genomes]
rs572980	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs580253	0.97[EUR][1000 genomes]
rs67513506	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs692897	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs692914	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7114768	0.83[AMR][1000 genomes]
rs7928549	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	esv2757475	chr11:104895876-104979717	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2759863	chr11:104895876-104979717	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv517089	chr11:104915563-104930676	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
11	nsv470	chr11:104916361-104961230	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104912600-104920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:104915800-104920400	Enhancers	HepG2	liver
3	chr11:104916200-104920200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:104916400-104919800	Enhancers	Hela-S3	cervix
5	chr11:104916800-104918800	Enhancers	NHDF-Ad	bronchial
6	chr11:104916800-104920400	Weak transcription	Small Intestine	intestine
7	chr11:104916800-104924400	Weak transcription	Left Ventricle	heart
8	chr11:104917200-104919000	Enhancers	Colon Smooth Muscle	Colon
9	chr11:104918000-104920200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:104918000-104922200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:104918200-104920000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:104918200-104920000	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:104918200-104921000	Weak transcription	Gastric	stomach
14	chr11:104918200-104925200	Weak transcription	Ovary	ovary
15	chr11:104918400-104919600	Enhancers	HUVEC	blood vessel
16	chr11:104918400-104920000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:104918600-104919600	Weak transcription	Adipose Nuclei	Adipose

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