Variant report

Variant	rs73355479
Chromosome Location	chr21:17108605-17108606
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17103751..17105716-chr21:17107281..17109325,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10482875	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10482876	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11910884	0.81[EUR][1000 genomes]
rs1543299	0.89[EUR][1000 genomes]
rs17241395	0.89[ASN][1000 genomes]
rs17241409	0.92[EUR][1000 genomes]
rs17241416	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17241423	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17241430	0.92[EUR][1000 genomes]
rs17241444	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17307120	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17307170	0.94[EUR][1000 genomes]
rs2205585	0.81[EUR][1000 genomes]
rs2223176	0.81[EUR][1000 genomes]
rs2242676	0.92[EUR][1000 genomes]
rs2404000	0.89[ASN][1000 genomes]
rs2823457	0.81[ASN][1000 genomes]
rs2823462	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823463	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823471	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823478	0.95[EUR][1000 genomes]
rs2823481	0.92[ASN][1000 genomes]
rs2823483	0.92[ASN][1000 genomes]
rs2823484	0.92[ASN][1000 genomes]
rs2823491	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823493	0.81[EUR][1000 genomes]
rs2823495	0.81[EUR][1000 genomes]
rs2823496	0.81[EUR][1000 genomes]
rs2823498	0.87[ASN][1000 genomes]
rs28627435	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4580465	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56299770	0.88[EUR][1000 genomes]
rs56333224	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56410772	0.92[EUR][1000 genomes]
rs56666611	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57733106	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59084861	0.87[ASN][1000 genomes]
rs60191002	0.88[EUR][1000 genomes]
rs60360638	0.80[EUR][1000 genomes]
rs60529604	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7277807	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7278428	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7282314	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7283764	0.88[EUR][1000 genomes]
rs73181987	0.91[EUR][1000 genomes]
rs73357260	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73892510	0.89[ASN][1000 genomes]
rs9981766	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv2830057	chr21:16960590-17113148	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17103200-17114400	Weak transcription	Spleen	Spleen
2	chr21:17103400-17114400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:17103800-17114400	Weak transcription	Lung	lung
4	chr21:17103800-17115000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:17104000-17114600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:17104000-17114600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr21:17104200-17110800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
9	chr21:17104600-17111800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:17104600-17113000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr21:17104600-17114600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr21:17104600-17123400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr21:17104800-17111400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:17104800-17115000	Weak transcription	Fetal Muscle Leg	muscle
15	chr21:17105000-17109400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr21:17105000-17114000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr21:17105400-17108800	Enhancers	Primary B cells from cord blood	blood
18	chr21:17105400-17110800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr21:17105400-17111600	Weak transcription	Brain Anterior Caudate	brain
20	chr21:17105400-17111600	Weak transcription	Esophagus	oesophagus
21	chr21:17105400-17111800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr21:17105400-17112000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr21:17105400-17112200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:17105400-17112200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr21:17105400-17112400	Weak transcription	Brain Hippocampus Middle	brain
26	chr21:17105400-17113200	Weak transcription	NH-A	brain
27	chr21:17105400-17113600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:17105400-17113800	Weak transcription	HSMMtube	muscle
29	chr21:17105400-17114000	Weak transcription	HMEC	breast
30	chr21:17105400-17114400	Weak transcription	Brain Germinal Matrix	brain
31	chr21:17105400-17114800	Weak transcription	Fetal Stomach	stomach
32	chr21:17105400-17115000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:17105400-17115200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr21:17105400-17119400	Weak transcription	Brain Angular Gyrus	brain
35	chr21:17105400-17125200	Weak transcription	Brain Substantia Nigra	brain
36	chr21:17105600-17108800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr21:17105600-17108800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr21:17105800-17110800	Weak transcription	Fetal Intestine Large	intestine
39	chr21:17105800-17114600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr21:17106000-17114400	Weak transcription	Gastric	stomach
41	chr21:17106000-17114600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:17106200-17108800	Enhancers	Dnd41	blood
43	chr21:17106200-17114800	Weak transcription	Fetal Thymus	thymus
44	chr21:17106400-17109400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr21:17106400-17113000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:17106400-17114800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr21:17106400-17115200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr21:17106600-17109400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr21:17106600-17110600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr21:17106600-17110600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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