Variant report

Variant	rs12515751
Chromosome Location	chr5:80866198-80866199
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10042303	0.80[CEU][hapmap]
rs10054360	0.91[YRI][hapmap]
rs10056236	0.95[YRI][hapmap]
rs10057707	0.91[YRI][hapmap]
rs10064862	0.95[YRI][hapmap]
rs10066110	0.85[YRI][hapmap]
rs10069094	0.86[YRI][hapmap]
rs10474032	0.95[YRI][hapmap]
rs10474033	0.81[YRI][hapmap]
rs10474035	0.85[YRI][hapmap]
rs10514221	0.91[YRI][hapmap]
rs10514230	0.86[CEU][hapmap]
rs10942267	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10942268	0.95[YRI][hapmap]
rs10942269	0.90[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10942270	0.97[ASN][1000 genomes]
rs10942275	0.84[CEU][hapmap]
rs11740689	0.95[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11747277	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11954000	0.81[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11954508	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12521909	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13157978	0.90[CEU][hapmap]
rs13158214	0.86[CEU][hapmap]
rs13182474	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16876417	0.91[YRI][hapmap]
rs16898989	0.91[YRI][hapmap]
rs35438373	1.00[ASN][1000 genomes]
rs35586490	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274955	0.85[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4283765	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4334855	0.97[ASN][1000 genomes]
rs4392600	0.85[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4426897	0.90[CEU][hapmap];0.90[CHB][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4513668	0.90[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4529168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4599515	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4626317	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56005129	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62366265	0.81[AFR][1000 genomes]
rs62368675	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6452419	0.90[CEU][hapmap];0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66969660	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6859225	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6866155	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6867426	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6869288	0.91[CEU][hapmap];0.88[CHB][hapmap];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6870325	0.84[AMR][1000 genomes]
rs6871860	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6874029	0.90[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6874274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6880200	0.90[CEU][hapmap];0.90[CHB][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6884862	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6887061	0.95[YRI][hapmap]
rs6887194	0.97[ASN][1000 genomes]
rs6888401	0.95[YRI][hapmap]
rs6890850	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6891181	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6895882	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6896235	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6897373	0.85[YRI][hapmap]
rs6898968	0.95[YRI][hapmap]
rs7702047	0.90[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7707981	0.90[CEU][hapmap]
rs7709916	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs7717663	0.86[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7720123	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7720736	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7721321	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7725320	0.86[CEU][hapmap];0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7735215	0.99[ASN][1000 genomes]
rs9293277	0.90[YRI][hapmap]
rs9986216	0.95[YRI][hapmap]

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	nsv462221	chr5:80834138-80883110	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv598751	chr5:80834138-80883110	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525225	chr5:80849084-80883110	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	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
5	esv2763467	chr5:80852616-80872981	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv965529	chr5:80864599-80867893	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
2	chr5:80834400-80867000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:80834800-80866400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:80834800-80870000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:80835200-80872800	Weak transcription	Fetal Kidney	kidney
6	chr5:80835200-80875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:80835600-80876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr5:80840800-80883400	Weak transcription	HSMM	muscle
9	chr5:80840800-80884600	Weak transcription	Ovary	ovary
10	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:80846200-80880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart
13	chr5:80850800-80866800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:80860200-80878800	Weak transcription	Esophagus	oesophagus
15	chr5:80860400-80866800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:80861600-80867200	Strong transcription	Dnd41	blood
17	chr5:80862400-80874800	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:80862800-80878800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:80863800-80867200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:80863800-80868800	Weak transcription	Fetal Stomach	stomach
21	chr5:80863800-80872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:80864200-80870400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:80864200-80886400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:80864200-80894200	Weak transcription	Fetal Lung	lung
25	chr5:80864400-80868200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:80864400-80868200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:80864400-80868600	Weak transcription	Primary T cells from cord blood	blood
28	chr5:80864600-80866200	Weak transcription	Primary B cells from cord blood	blood
29	chr5:80864600-80866800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:80864600-80867400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr5:80864600-80894200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:80864800-80868200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:80864800-80869000	Weak transcription	Thymus	Thymus
34	chr5:80864800-80875200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:80865000-80871600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:80865000-80875200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:80865200-80867800	Weak transcription	Fetal Thymus	thymus
38	chr5:80865200-80868600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:80865400-80868400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:80865600-80868600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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