Variant report

Variant	rs10518119
Chromosome Location	chr4:75101137-75101138
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	chr4:75100619..75102686-chr4:75103719..75106543,2	K562	blood:
2	chr4:75022859..75024733-chr4:75099700..75101269,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163738	Chromatin interaction
ENSG00000269559	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10938110	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11942036	1.00[EUR][1000 genomes]
rs11946885	1.00[EUR][1000 genomes]
rs11947475	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1440405	1.00[EUR][1000 genomes]
rs1440406	1.00[EUR][1000 genomes]
rs16850579	1.00[EUR][1000 genomes]
rs16850585	1.00[EUR][1000 genomes]
rs16850798	1.00[TSI][hapmap]
rs16850845	1.00[TSI][hapmap]
rs16850933	1.00[TSI][hapmap]
rs16851133	1.00[MEX][hapmap]
rs4694665	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs474734	1.00[EUR][1000 genomes]
rs479117	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs507061	1.00[EUR][1000 genomes]
rs522698	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs536780	1.00[EUR][1000 genomes]
rs552357	1.00[EUR][1000 genomes]
rs55946357	1.00[EUR][1000 genomes]
rs56000473	1.00[EUR][1000 genomes]
rs56006412	1.00[EUR][1000 genomes]
rs56236141	1.00[EUR][1000 genomes]
rs56896590	1.00[EUR][1000 genomes]
rs569187	1.00[EUR][1000 genomes]
rs569206	1.00[EUR][1000 genomes]
rs60336088	1.00[EUR][1000 genomes]
rs60633195	1.00[EUR][1000 genomes]
rs6833925	1.00[EUR][1000 genomes]
rs6841682	1.00[EUR][1000 genomes]
rs6850735	1.00[EUR][1000 genomes]
rs73824406	1.00[EUR][1000 genomes]
rs73824413	1.00[EUR][1000 genomes]
rs73824415	1.00[EUR][1000 genomes]
rs73824419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824429	1.00[EUR][1000 genomes]
rs73827550	1.00[EUR][1000 genomes]
rs73827558	1.00[EUR][1000 genomes]
rs73827561	1.00[EUR][1000 genomes]
rs73827562	1.00[EUR][1000 genomes]
rs7681620	1.00[EUR][1000 genomes]
rs7687073	1.00[EUR][1000 genomes]
rs922136	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv594684	chr4:75015750-75106485	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75080600-75109600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:75085400-75102600	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:75086200-75117600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:75090400-75102200	Weak transcription	Pancreas	Pancrea
5	chr4:75091800-75103200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:75093000-75105000	Weak transcription	Lung	lung
7	chr4:75093000-75117400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:75097400-75101400	Weak transcription	HMEC	breast
9	chr4:75097400-75117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:75097600-75103200	Weak transcription	NHEK	skin
11	chr4:75099200-75103200	Weak transcription	Hela-S3	cervix
12	chr4:75100600-75101400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:75101000-75101400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:75101000-75101400	Enhancers	GM12878-XiMat	blood

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