Variant report

Variant	rs2171440
Chromosome Location	chr8:95428694-95428695
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95416299..95420056-chr8:95426650..95429776,4	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10087254	0.98[ASN][1000 genomes]
rs10087503	0.97[ASN][1000 genomes]
rs10095298	0.97[ASN][1000 genomes]
rs10102233	0.82[ASN][1000 genomes]
rs10102496	0.81[ASN][1000 genomes]
rs1011249	0.86[ASN][1000 genomes]
rs10112606	0.81[ASN][1000 genomes]
rs10216902	0.84[ASN][1000 genomes]
rs10464877	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808669	0.98[ASN][1000 genomes]
rs10956913	0.97[ASN][1000 genomes]
rs10956914	0.97[ASN][1000 genomes]
rs12375355	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12545262	0.82[ASN][1000 genomes]
rs12549544	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12674614	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12675415	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12676373	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680029	0.82[ASN][1000 genomes]
rs12680213	0.80[ASN][1000 genomes]
rs12681366	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12681504	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12682038	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12682524	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13280849	0.81[ASN][1000 genomes]
rs13281619	0.80[ASN][1000 genomes]
rs1372048	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1561648	0.84[ASN][1000 genomes]
rs16916760	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16916788	0.80[ASN][1000 genomes]
rs16916802	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1872889	0.85[ASN][1000 genomes]
rs2011246	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2043987	0.84[ASN][1000 genomes]
rs2043988	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2165405	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2197003	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2197004	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291439	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2381793	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2381886	0.98[ASN][1000 genomes]
rs28641679	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2919655	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2919656	0.98[ASN][1000 genomes]
rs2919657	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919658	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919659	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919660	0.84[ASN][1000 genomes]
rs2919662	0.84[ASN][1000 genomes]
rs2919664	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919667	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919668	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919670	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919672	0.86[ASN][1000 genomes]
rs2919673	0.86[ASN][1000 genomes]
rs2921386	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2921389	0.84[ASN][1000 genomes]
rs2930956	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930958	0.86[ASN][1000 genomes]
rs2930961	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930962	0.86[ASN][1000 genomes]
rs2930963	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930964	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930968	0.84[ASN][1000 genomes]
rs2930970	0.84[ASN][1000 genomes]
rs2930971	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2931631	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2931632	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2931633	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2960121	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2960122	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019145	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019146	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019147	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019148	0.81[EUR][1000 genomes]
rs3019149	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019150	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019154	0.86[ASN][1000 genomes]
rs3019155	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019156	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019277	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019278	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019279	0.84[ASN][1000 genomes]
rs3019280	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019281	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019282	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019284	0.98[ASN][1000 genomes]
rs35918414	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4735291	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735292	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4735293	0.83[EUR][1000 genomes]
rs55963151	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56285115	0.80[ASN][1000 genomes]
rs6980687	0.83[ASN][1000 genomes]
rs6999103	0.98[ASN][1000 genomes]
rs6999976	0.98[ASN][1000 genomes]
rs72672679	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72674819	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs752460	0.82[EUR][1000 genomes]
rs9297939	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
2	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:95393200-95447000	Weak transcription	K562	blood
4	chr8:95404200-95429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:95408600-95429000	Weak transcription	HMEC	breast
6	chr8:95409400-95443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
8	chr8:95412400-95430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:95416200-95429400	Weak transcription	HSMM	muscle
10	chr8:95416800-95445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:95417200-95428800	Weak transcription	Dnd41	blood
12	chr8:95419000-95429400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:95419200-95429400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:95420800-95432000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:95422000-95430600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:95423200-95429800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:95423200-95430200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:95423600-95429800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:95423600-95430000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:95423600-95430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:95424600-95428800	Weak transcription	A549	lung
22	chr8:95424800-95430400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:95425800-95428800	Weak transcription	GM12878-XiMat	blood
24	chr8:95425800-95429600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:95427400-95429000	Weak transcription	Hela-S3	cervix

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