Variant report

Variant	rs8086703
Chromosome Location	chr18:11519141-11519142
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11518713..11519703-chr18:11552996..11553743,6	MCF-7	breast:
2	chr18:11518909..11519601-chr18:11549107..11549874,2	MCF-7	breast:
3	chr18:11513286..11515221-chr18:11517194..11519674,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1031542	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1031544	0.80[CEU][hapmap]
rs1122103	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1455244	0.91[CEU][hapmap];0.83[CHB][hapmap]
rs1551458	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1966888	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155683	0.81[AMR][1000 genomes]
rs2219170	0.91[CEU][hapmap];0.83[CHB][hapmap]
rs2298532	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2865814	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4312372	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4644913	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4796928	0.83[CEU][hapmap]
rs4797542	0.90[CEU][hapmap]
rs4797547	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4797548	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs494486	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs507790	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59801755	0.86[EUR][1000 genomes]
rs6505658	0.96[CEU][hapmap]
rs6505659	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6505660	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7226759	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7226808	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7230263	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7230268	0.82[EUR][1000 genomes]
rs7230424	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8097953	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8098169	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs921804	0.83[EUR][1000 genomes]
rs9303736	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9953784	0.81[AMR][1000 genomes]
rs9954648	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1056541	chr18:11336695-11558542	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv543651	chr18:11336695-11558542	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv458031	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv576482	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv909381	chr18:11431945-11609487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv2204	chr18:11499825-11544209	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv960651	chr18:11516995-11530896	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11512400-11520600	Weak transcription	Right Atrium	heart
2	chr18:11515600-11520400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:11516400-11519600	Enhancers	Fetal Lung	lung
4	chr18:11517000-11519200	Enhancers	Fetal Muscle Leg	muscle
5	chr18:11517000-11519600	Enhancers	Fetal Thymus	thymus
6	chr18:11518000-11519200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:11518000-11519200	Enhancers	Thymus	Thymus
8	chr18:11518000-11519200	Weak transcription	Spleen	Spleen
9	chr18:11518200-11520600	Weak transcription	NHDF-Ad	bronchial
10	chr18:11518200-11523600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:11518400-11519400	Enhancers	Fetal Muscle Trunk	muscle
12	chr18:11518800-11519200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr18:11518800-11519200	Enhancers	HepG2	liver
14	chr18:11519000-11519200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
15	chr18:11519000-11519200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr18:11519000-11519200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:11519000-11519200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:11519000-11519200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr18:11519000-11519200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr18:11519000-11519200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr18:11519000-11519200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr18:11519000-11519200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:11519000-11519200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr18:11519000-11519200	Enhancers	GM12878-XiMat	blood
25	chr18:11519000-11519600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:11519000-11523000	Weak transcription	Hela-S3	cervix

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