Variant report

Variant	rs2470747
Chromosome Location	chr8:95429223-95429224
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	chr8:95416299..95420056-chr8:95426650..95429776,4	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10956912	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11778733	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11786007	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2244209	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2255130	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2263133	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445698	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445701	0.89[ASN][1000 genomes]
rs2445702	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445713	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2448907	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2448915	0.89[ASN][1000 genomes]
rs2450248	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450249	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450550	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450551	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450552	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450555	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2450560	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450562	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2450563	0.94[ASN][1000 genomes]
rs2450564	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2450565	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2450566	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450571	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450574	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450576	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450577	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450579	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470727	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470729	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470730	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470734	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470736	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470737	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470738	0.83[ASN][1000 genomes]
rs2470741	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470743	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470744	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470745	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515097	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515101	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2515102	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515105	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515106	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515109	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515119	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2515120	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2515121	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515122	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515132	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515142	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515151	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515152	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515158	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515159	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515160	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515162	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515163	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515164	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515166	0.87[ASN][1000 genomes]
rs2515168	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28503419	0.98[ASN][1000 genomes]
rs3098702	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098704	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098727	0.96[EUR][1000 genomes]
rs3099402	0.96[EUR][1000 genomes]
rs3136400	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136407	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136414	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56303696	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7007534	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs882521	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:95393200-95447000	Weak transcription	K562	blood
3	chr8:95404200-95429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:95409400-95443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
6	chr8:95412400-95430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:95416200-95429400	Weak transcription	HSMM	muscle
8	chr8:95416800-95445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:95419000-95429400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:95419200-95429400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:95420800-95432000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:95422000-95430600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:95423200-95429800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:95423200-95430200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:95423600-95429800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:95423600-95430000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:95423600-95430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:95424800-95430400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:95425800-95429600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:95428800-95429600	ZNF genes & repeats	Dnd41	blood
21	chr8:95428800-95429800	Flanking Active TSS	A549	lung
22	chr8:95428800-95431200	ZNF genes & repeats	GM12878-XiMat	blood
23	chr8:95429000-95429600	Enhancers	HUVEC	blood vessel
24	chr8:95429000-95430600	Enhancers	Hela-S3	cervix
25	chr8:95429000-95431000	Enhancers	HepG2	liver
26	chr8:95429000-95431000	Enhancers	HMEC	breast
27	chr8:95429200-95430000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:95429200-95430400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:95429200-95430600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:95429200-95430600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:95429200-95430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:95429200-95430800	Enhancers	Stomach Mucosa	stomach
33	chr8:95429200-95431000	Enhancers	NHDF-Ad	bronchial

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