Variant report

Variant	rs2972245
Chromosome Location	chr5:80872138-80872139
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80859809..80862860-chr5:80870280..80872948,3	K562	blood:
2	chr5:80870794..80873300-chr5:80875722..80877575,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10036712	0.85[JPT][hapmap]
rs10042303	0.85[JPT][hapmap]
rs10454898	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10942269	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12153000	0.84[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12188888	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2917541	0.86[AFR][1000 genomes]
rs2917545	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2972227	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2972228	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972230	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972232	0.85[CEU][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2972238	0.86[AFR][1000 genomes]
rs2972239	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2972241	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2972244	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2973335	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2973336	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2973341	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973343	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2973345	0.86[AFR][1000 genomes]
rs2973346	0.86[AFR][1000 genomes]
rs2973347	0.84[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2973350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34414290	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs388560	0.86[AFR][1000 genomes]
rs406465	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs417684	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4274955	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4283765	0.84[ASN][1000 genomes]
rs433118	1.00[YRI][hapmap]
rs4392600	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4426897	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs4513668	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4519906	0.89[AMR][1000 genomes]
rs4529168	0.85[JPT][hapmap]
rs4626317	0.84[ASN][1000 genomes]
rs6452416	0.81[ASN][1000 genomes]
rs6452419	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs6866155	0.83[ASN][1000 genomes]
rs6867426	0.83[ASN][1000 genomes]
rs6869288	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6871860	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6874029	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6874274	0.85[JPT][hapmap]
rs6878037	0.81[ASN][1000 genomes]
rs6880200	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6884862	0.80[ASN][1000 genomes]
rs6890850	0.83[ASN][1000 genomes]
rs6891181	0.81[ASN][1000 genomes]
rs6895882	0.84[ASN][1000 genomes]
rs6896235	0.84[ASN][1000 genomes]
rs7702047	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7717663	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7720123	0.85[ASN][1000 genomes]
rs7720736	0.82[ASN][1000 genomes]
rs7721321	0.92[JPT][hapmap]
rs7725320	1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
2	chr5:80835200-80872800	Weak transcription	Fetal Kidney	kidney
3	chr5:80835200-80875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:80835600-80876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr5:80840800-80883400	Weak transcription	HSMM	muscle
6	chr5:80840800-80884600	Weak transcription	Ovary	ovary
7	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:80846200-80880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart
10	chr5:80860200-80878800	Weak transcription	Esophagus	oesophagus
11	chr5:80862400-80874800	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:80862800-80878800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:80864200-80886400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:80864200-80894200	Weak transcription	Fetal Lung	lung
15	chr5:80864600-80894200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:80864800-80875200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:80865000-80875200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:80867800-80875200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:80868600-80875200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:80869200-80875400	Weak transcription	Primary T cells from cord blood	blood
21	chr5:80869400-80887600	Weak transcription	Fetal Stomach	stomach
22	chr5:80869800-80886400	Weak transcription	Thymus	Thymus
23	chr5:80870000-80887600	Weak transcription	Aorta	Aorta
24	chr5:80870200-80875200	Weak transcription	GM12878-XiMat	blood
25	chr5:80870600-80883000	Weak transcription	Fetal Thymus	thymus
26	chr5:80870600-80886600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:80870800-80894200	Weak transcription	Primary B cells from cord blood	blood
28	chr5:80871200-80876600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:80871400-80876400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:80871600-80872600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:80871600-80875000	Weak transcription	HUVEC	blood vessel
32	chr5:80871600-80875200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:80871800-80872200	Genic enhancers	Dnd41	blood
34	chr5:80872000-80874000	Weak transcription	Primary hematopoietic stem cells	blood

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