Variant report

Variant	rs13281294
Chromosome Location	chr8:11619205-11619206
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11618295..11620623-chr8:11664020..11665628,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf49-1	chr8:11618765-11620732	NONHSAT125071

Variant related genes	Relation type
ENSG00000079459	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1062219	1.00[JPT][hapmap]
rs11785481	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13250578	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs2409814	1.00[JPT][hapmap]
rs2645396	1.00[JPT][hapmap]
rs3735812	1.00[ASN][1000 genomes]
rs3735819	1.00[JPT][hapmap]
rs6991234	1.00[JPT][hapmap]
rs7006733	1.00[JPT][hapmap]
rs804275	0.90[ASN][1000 genomes]
rs804280	1.00[JPT][hapmap]
rs804283	1.00[JPT][hapmap]
rs810738	1.00[JPT][hapmap]
rs8191516	0.90[ASN][1000 genomes]
rs9644757	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11607000-11622800	Weak transcription	Stomach Mucosa	stomach
2	chr8:11608800-11619400	Strong transcription	Duodenum Mucosa	Duodenum
3	chr8:11610600-11621200	Strong transcription	Fetal Intestine Small	intestine
4	chr8:11615800-11626800	Weak transcription	Left Ventricle	heart
5	chr8:11617000-11622800	Weak transcription	Fetal Heart	heart
6	chr8:11617000-11623000	Weak transcription	Placenta	Placenta
7	chr8:11617000-11626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:11617200-11619400	Weak transcription	HSMMtube	muscle
9	chr8:11617200-11619600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:11617400-11619400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:11617400-11619400	Weak transcription	HSMM	muscle
12	chr8:11617400-11620000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:11617400-11622800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:11617400-11623200	Weak transcription	HepG2	liver
15	chr8:11617400-11626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:11617400-11626400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:11617400-11626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:11618000-11626000	Weak transcription	Pancreas	Pancrea
19	chr8:11618000-11626800	Weak transcription	Fetal Intestine Large	intestine
20	chr8:11618200-11619400	Enhancers	NH-A	brain
21	chr8:11618400-11623000	Weak transcription	Liver	Liver
22	chr8:11618600-11619400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:11618600-11619800	Weak transcription	Ovary	ovary
24	chr8:11618800-11619400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:11618800-11620800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:11619000-11619600	Enhancers	K562	blood
27	chr8:11619000-11620200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:11619000-11621800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:11619200-11619600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:11619200-11619600	Strong transcription	Gastric	stomach
31	chr8:11619200-11620000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:11619200-11620000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:11619200-11620400	Enhancers	Right Ventricle	heart
34	chr8:11619200-11620400	Enhancers	HMEC	breast
35	chr8:11619200-11620400	Enhancers	NHLF	lung
36	chr8:11619200-11620600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:11619200-11621000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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