Variant report

Variant	rs4958016
Chromosome Location	chr5:111557800-111557801
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	chr5:111552892..111554536-chr5:111555904..111558147,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10463628	0.82[YRI][hapmap]
rs11948718	1.00[AMR][1000 genomes]
rs11952407	1.00[AMR][1000 genomes]
rs11954056	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11954058	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1427976	0.81[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1427977	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134169	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs17134172	0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134175	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs17134215	0.82[YRI][hapmap]
rs17134220	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134247	1.00[AMR][1000 genomes]
rs17134248	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4331945	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4354094	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4355564	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4604230	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4958017	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4998734	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6594579	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:111504800-111586400	Weak transcription	Gastric	stomach
3	chr5:111538600-111563600	Weak transcription	Lung	lung
4	chr5:111546600-111561600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:111554000-111562800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:111554200-111558200	Weak transcription	Pancreas	Pancrea
7	chr5:111554200-111563600	Weak transcription	Left Ventricle	heart
8	chr5:111554200-111563600	Weak transcription	Right Ventricle	heart
9	chr5:111554200-111568400	Weak transcription	Right Atrium	heart
10	chr5:111556200-111558600	Enhancers	Fetal Heart	heart
11	chr5:111556600-111559000	Enhancers	A549	lung
12	chr5:111556800-111558200	Enhancers	Fetal Kidney	kidney
13	chr5:111556800-111559400	Enhancers	Liver	Liver
14	chr5:111557000-111558800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:111557000-111561200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:111557000-111563600	Weak transcription	Stomach Mucosa	stomach
17	chr5:111557200-111558000	Weak transcription	Psoas Muscle	Psoas
18	chr5:111557600-111558200	Enhancers	Ovary	ovary
19	chr5:111557800-111558600	Enhancers	Placenta Amnion	Placenta Amnion

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