Variant report

Variant	rs10942270
Chromosome Location	chr5:80873301-80873302
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	chr5:80872758..80875728-chr5:80879949..80882376,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10942267	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10942269	0.85[ASN][1000 genomes]
rs11740689	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11747277	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11954000	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11954508	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12515751	0.97[ASN][1000 genomes]
rs12521909	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13182474	0.96[ASN][1000 genomes]
rs13436668	0.84[AMR][1000 genomes]
rs35438373	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35586490	0.97[ASN][1000 genomes]
rs4274955	0.89[ASN][1000 genomes]
rs4283765	0.89[ASN][1000 genomes]
rs4334855	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392600	0.89[ASN][1000 genomes]
rs4426897	0.89[ASN][1000 genomes]
rs4513668	0.89[ASN][1000 genomes]
rs4529168	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4599515	1.00[ASN][1000 genomes]
rs4626317	0.89[ASN][1000 genomes]
rs56005129	0.86[AFR][1000 genomes]
rs62368675	0.96[ASN][1000 genomes]
rs6452419	0.89[ASN][1000 genomes]
rs66969660	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6859225	1.00[ASN][1000 genomes]
rs6866155	0.85[ASN][1000 genomes]
rs6867426	0.85[ASN][1000 genomes]
rs6869288	0.88[ASN][1000 genomes]
rs6871860	0.86[ASN][1000 genomes]
rs6874029	0.89[ASN][1000 genomes]
rs6874274	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880200	0.89[ASN][1000 genomes]
rs6884862	0.83[ASN][1000 genomes]
rs6887194	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890850	0.85[ASN][1000 genomes]
rs6891181	0.85[ASN][1000 genomes]
rs6895882	0.89[ASN][1000 genomes]
rs6896235	0.89[ASN][1000 genomes]
rs7702047	0.88[ASN][1000 genomes]
rs7709916	0.94[AFR][1000 genomes]
rs7717663	0.88[ASN][1000 genomes]
rs7720123	0.88[ASN][1000 genomes]
rs7720736	0.84[ASN][1000 genomes]
rs7721321	0.96[ASN][1000 genomes]
rs7725320	0.89[ASN][1000 genomes]
rs7735215	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
2	chr5:80835200-80875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:80835600-80876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:80840800-80883400	Weak transcription	HSMM	muscle
5	chr5:80840800-80884600	Weak transcription	Ovary	ovary
6	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:80846200-80880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart
9	chr5:80860200-80878800	Weak transcription	Esophagus	oesophagus
10	chr5:80862400-80874800	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:80862800-80878800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:80864200-80886400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:80864200-80894200	Weak transcription	Fetal Lung	lung
14	chr5:80864600-80894200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:80864800-80875200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:80865000-80875200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:80867800-80875200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:80868600-80875200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:80869200-80875400	Weak transcription	Primary T cells from cord blood	blood
20	chr5:80869400-80887600	Weak transcription	Fetal Stomach	stomach
21	chr5:80869800-80886400	Weak transcription	Thymus	Thymus
22	chr5:80870000-80887600	Weak transcription	Aorta	Aorta
23	chr5:80870200-80875200	Weak transcription	GM12878-XiMat	blood
24	chr5:80870600-80883000	Weak transcription	Fetal Thymus	thymus
25	chr5:80870600-80886600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:80870800-80894200	Weak transcription	Primary B cells from cord blood	blood
27	chr5:80871200-80876600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:80871400-80876400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:80871600-80875000	Weak transcription	HUVEC	blood vessel
30	chr5:80871600-80875200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:80872000-80874000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:80872400-80874600	Weak transcription	Dnd41	blood
33	chr5:80872600-80874800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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