Variant report

Variant	rs452314
Chromosome Location	chr5:80983945-80983946
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	chr5:80983475..80985751-chr5:80991739..80993703,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1023747	0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[EUR][1000 genomes]
rs1095605	0.85[EUR][1000 genomes]
rs11957810	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs12186581	0.82[ASN][1000 genomes]
rs13156146	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13160079	0.86[ASN][1000 genomes]
rs1347597	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1436498	0.87[EUR][1000 genomes]
rs2043646	0.92[CEU][hapmap]
rs34007998	0.86[ASN][1000 genomes]
rs365147	0.90[EUR][1000 genomes]
rs365241	0.98[ASN][1000 genomes]
rs371705	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs374479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs380946	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs382523	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs384433	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs385332	0.90[EUR][1000 genomes]
rs385716	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs389860	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs390171	0.96[CEU][hapmap]
rs396231	0.84[CHB][hapmap]
rs398666	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs399104	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs402061	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs402352	0.96[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402433	0.81[ASN][1000 genomes]
rs403777	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs403795	0.98[ASN][1000 genomes]
rs406283	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs406292	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs411520	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411990	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs418033	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419017	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs419435	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs420202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs420412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs421348	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422523	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs424762	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs424844	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs425897	0.98[ASN][1000 genomes]
rs432617	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435901	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs437417	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438128	0.87[EUR][1000 genomes]
rs445253	0.90[EUR][1000 genomes]
rs446064	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446565	0.81[EUR][1000 genomes]
rs447574	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs453068	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs454487	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs585558	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs586695	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs682481	0.90[EUR][1000 genomes]
rs6898782	0.84[CHB][hapmap]
rs827065	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863772	0.96[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882236	chr5:80930992-80999768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882237	chr5:80938489-81006061	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3345018	chr5:80972245-80998709	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3330268	chr5:80972245-81001669	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80945600-80985400	Weak transcription	Fetal Kidney	kidney
2	chr5:80967400-80991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:80971200-80995800	Weak transcription	HSMMtube	muscle
4	chr5:80973400-80990000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:80974800-80984200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:80976000-80996000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:80978200-80984400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr5:80980000-80984600	Weak transcription	Fetal Lung	lung
9	chr5:80980600-80996000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:80981000-80989000	Weak transcription	Psoas Muscle	Psoas
11	chr5:80981200-80985200	Weak transcription	Right Atrium	heart
12	chr5:80981400-80984800	Genic enhancers	Dnd41	blood
13	chr5:80981600-80986400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:80982200-80987000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:80982800-80984000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:80982800-80984000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:80982800-80984200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:80982800-80984400	ZNF genes & repeats	Fetal Stomach	stomach
19	chr5:80982800-80984400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:80982800-80984600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr5:80982800-80984600	ZNF genes & repeats	Fetal Brain Female	brain
22	chr5:80982800-80984600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:80982800-80984600	Genic enhancers	Thymus	Thymus
24	chr5:80982800-80984800	Genic enhancers	Fetal Thymus	thymus
25	chr5:80982800-80984800	ZNF genes & repeats	GM12878-XiMat	blood
26	chr5:80982800-80985400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:80982800-80985400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr5:80982800-80988600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr5:80983000-80984200	Enhancers	Esophagus	oesophagus
30	chr5:80983000-80984200	Strong transcription	Fetal Intestine Large	intestine
31	chr5:80983000-80984400	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr5:80983000-80984600	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr5:80983000-80984800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:80983000-80985000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:80983200-80984000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:80983200-80984000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:80983200-80984000	Genic enhancers	Lung	lung
38	chr5:80983200-80984000	Weak transcription	Right Ventricle	heart
39	chr5:80983200-80984000	Enhancers	NHEK	skin
40	chr5:80983200-80984200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:80983200-80986000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:80983400-80984000	Enhancers	Colon Smooth Muscle	Colon
43	chr5:80983400-80984600	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr5:80983400-80985000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr5:80983600-80984200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:80983600-80984400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
47	chr5:80983600-80984400	ZNF genes & repeats	Spleen	Spleen
48	chr5:80983800-80984000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr5:80983800-80984000	Genic enhancers	Aorta	Aorta
50	chr5:80983800-80984000	Enhancers	Brain Inferior Temporal Lobe	brain

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