Variant report

Variant	rs17110449
Chromosome Location	chr14:80681384-80681385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:80681328..80683763-chr14:80852742..80855427,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000211448	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10131076	0.88[ASN][1000 genomes]
rs10133463	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10140980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10144099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10146631	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10149251	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10149527	0.84[YRI][hapmap]
rs10150064	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150190	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10483947	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11159454	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11851891	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1388378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170407	0.81[EUR][1000 genomes]
rs17110492	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17110521	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1884071	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1907526	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955625	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2160354	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2160355	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs224969	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs224997	0.81[EUR][1000 genomes]
rs224999	0.81[EUR][1000 genomes]
rs225001	0.81[EUR][1000 genomes]
rs225003	0.81[EUR][1000 genomes]
rs225004	0.81[EUR][1000 genomes]
rs2267872	1.00[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2267873	0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2273173	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2295138	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28607034	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28883971	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs54566	0.82[EUR][1000 genomes]
rs55859799	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55884286	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56033314	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61989398	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574551	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7140952	1.00[CEU][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7141617	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7145153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145584	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7146189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152836	0.82[EUR][1000 genomes]
rs7154177	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7154898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7159642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7159995	0.89[ASN][1000 genomes]
rs7160310	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs7350729	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003183	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8009555	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8011716	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9652301	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9972105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv534191	chr14:80674955-80736720	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80677800-80681400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:80677800-80681400	Weak transcription	Esophagus	oesophagus
3	chr14:80677800-80682000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:80678600-80681400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:80678600-80681400	Weak transcription	HSMM	muscle
6	chr14:80678600-80682000	Weak transcription	Adipose Nuclei	Adipose
7	chr14:80678600-80682200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:80678600-80682400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:80678600-80682400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:80678600-80682400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr14:80678800-80681400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:80678800-80682000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:80678800-80682000	Weak transcription	Stomach Mucosa	stomach
14	chr14:80678800-80682200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:80678800-80682200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:80678800-80682600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:80679000-80681400	Enhancers	A549	lung
18	chr14:80679000-80682200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:80679000-80683600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:80679600-80682000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:80680200-80682000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:80680600-80681400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:80680600-80682600	Weak transcription	Placenta	Placenta
24	chr14:80680600-80683200	Weak transcription	Hela-S3	cervix
25	chr14:80681200-80682000	Enhancers	HSMMtube	muscle

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