Variant report

Variant	rs13335758
Chromosome Location	chr16:70839678-70839679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr16:70839355-70839951	IMR90	lung:	n/a	n/a
2	MAFK	chr16:70839420-70839686	HepG2	liver:	n/a	n/a
3	FOS	chr16:70839498-70840119	HUVEC	blood vessel:	n/a	chr16:70839862-70839873
4	POLR2A	chr16:70839433-70839904	IMR90	lung:	n/a	n/a
5	GATA2	chr16:70839469-70840014	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70837606..70840340-chr16:70840352..70843516,3	K562	blood:
2	chr16:70833200..70838396-chr16:70839036..70844096,11	K562	blood:
3	chr16:70834111..70836791-chr16:70838673..70840669,3	MCF-7	breast:
4	chr16:70838203..70840751-chr16:70840809..70843253,2	MCF-7	breast:
5	chr16:70838196..70839919-chr16:71532691..71534833,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL34-3	chr16:70838337-70840039	ENSG00000251103
2	lnc-VAC14-1	chr16:70838536-70840039	NONHSAT143450

No data

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000262890	TF binding region
ENSG00000103043	Chromatin interaction
ENSG00000262890	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1009285	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11863319	0.96[ASN][1000 genomes]
rs11864614	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11866379	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12920588	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12924064	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12926985	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12928270	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12929374	0.91[ASN][1000 genomes]
rs12934723	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12935645	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1551528	0.86[EUR][1000 genomes]
rs1551529	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16970513	0.82[ASN][1000 genomes]
rs28676580	0.82[ASN][1000 genomes]
rs34268521	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35144432	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35426120	0.93[ASN][1000 genomes]
rs35665975	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3760118	0.85[ASN][1000 genomes]
rs3855651	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985364	0.82[ASN][1000 genomes]
rs4985425	0.82[ASN][1000 genomes]
rs52826576	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60190856	0.96[ASN][1000 genomes]
rs6416703	0.90[EUR][1000 genomes]
rs713511	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71384769	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71401831	0.92[ASN][1000 genomes]
rs7185921	0.82[ASN][1000 genomes]
rs7188712	0.85[ASN][1000 genomes]
rs7202363	0.96[ASN][1000 genomes]
rs8044133	0.94[ASN][1000 genomes]
rs8052615	0.93[ASN][1000 genomes]
rs8060947	0.92[ASN][1000 genomes]
rs9931380	0.96[ASN][1000 genomes]

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	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70835600-70842800	Weak transcription	Brain Anterior Caudate	brain
2	chr16:70837600-70840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:70837600-70841000	Enhancers	HMEC	breast
4	chr16:70837800-70840400	Enhancers	NHLF	lung
5	chr16:70838000-70839800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:70838000-70840400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:70838000-70840400	Enhancers	NHDF-Ad	bronchial
8	chr16:70838000-70840600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:70838400-70840400	Enhancers	NHEK	skin
10	chr16:70838600-70840600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:70838600-70840600	Enhancers	HSMM	muscle
12	chr16:70838600-70840600	Enhancers	HUVEC	blood vessel
13	chr16:70838800-70840400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:70839200-70840800	Enhancers	NH-A	brain
15	chr16:70839400-70841000	Enhancers	Osteobl	bone
16	chr16:70839400-70841200	Enhancers	Muscle Satellite Cultured Cells	--

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