Variant report

Variant	rs12680472
Chromosome Location	chr8:118869138-118869139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10089630	0.86[CEU][hapmap]
rs10098795	0.87[CEU][hapmap]
rs12676684	0.95[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12677136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12682457	0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs17430315	0.87[CEU][hapmap]
rs17430357	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17430364	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17439784	0.95[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs17439826	0.95[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs17452847	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs28535273	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4129114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4129115	0.84[ASN][1000 genomes]
rs62521109	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66732486	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118860800-118874800	Weak transcription	Lung	lung
2	chr8:118861000-118874200	Weak transcription	A549	lung
3	chr8:118861200-118875000	Weak transcription	Right Ventricle	heart
4	chr8:118861400-118872400	Weak transcription	Aorta	Aorta
5	chr8:118861400-118878600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:118861600-118876200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:118861600-118878200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:118863200-118872600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:118863200-118874400	Weak transcription	Stomach Mucosa	stomach
10	chr8:118863200-118879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:118863400-118870000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:118863400-118873000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:118863400-118874200	Weak transcription	HSMM	muscle
14	chr8:118863400-118874600	Weak transcription	HUVEC	blood vessel
15	chr8:118863400-118874800	Weak transcription	NH-A	brain
16	chr8:118863600-118872600	Weak transcription	NHLF	lung
17	chr8:118864000-118872400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:118864200-118872600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:118864200-118874800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:118864200-118878600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:118864600-118873000	Weak transcription	Osteobl	bone
22	chr8:118866000-118870000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:118866600-118869400	Weak transcription	Fetal Intestine Small	intestine
24	chr8:118866600-118872600	Weak transcription	Small Intestine	intestine
25	chr8:118866600-118874600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:118867000-118872600	Weak transcription	NHDF-Ad	bronchial
27	chr8:118868800-118869800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:118868800-118870400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:118868800-118870600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:118869000-118870000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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