Variant report

Variant	rs10473849
Chromosome Location	chr5:80814184-80814185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80812504..80815105-chr5:80816670..80818298,2	K562	blood:
2	chr5:80810454..80812112-chr5:80812984..80815281,2	K562	blood:
3	chr5:80812937..80815009-chr5:80816402..80819126,2	MCF-7	breast:
4	chr5:80807758..80809776-chr5:80812780..80814946,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACOT12-9	chr5:80813191-80815724	NONHSAT102466

Variant related genes	Relation type
ENSG00000145687	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10036942	0.89[ASN][1000 genomes]
rs10050981	0.89[ASN][1000 genomes]
rs10054360	0.89[ASN][1000 genomes]
rs10056236	0.89[ASN][1000 genomes]
rs10060208	0.89[ASN][1000 genomes]
rs10474032	1.00[JPT][hapmap]
rs10474035	0.89[ASN][1000 genomes]
rs10514221	0.89[ASN][1000 genomes]
rs13354281	0.89[ASN][1000 genomes]
rs16876417	1.00[ASN][1000 genomes]
rs16898989	0.89[ASN][1000 genomes]
rs28546170	0.89[ASN][1000 genomes]
rs56749084	1.00[AMR][1000 genomes]
rs57587453	0.89[ASN][1000 genomes]
rs58652756	0.89[ASN][1000 genomes]
rs61511117	0.87[ASN][1000 genomes]
rs61561045	0.89[ASN][1000 genomes]
rs6452405	0.87[ASN][1000 genomes]
rs6452417	0.89[ASN][1000 genomes]
rs6869839	0.89[ASN][1000 genomes]
rs6875373	0.87[ASN][1000 genomes]
rs6875430	0.87[ASN][1000 genomes]
rs6884379	0.89[ASN][1000 genomes]
rs6887061	0.89[ASN][1000 genomes]
rs6893886	0.89[ASN][1000 genomes]
rs6897373	0.89[ASN][1000 genomes]
rs6898968	0.89[ASN][1000 genomes]
rs73133677	0.89[ASN][1000 genomes]
rs73135608	0.89[ASN][1000 genomes]
rs73137646	1.00[AMR][1000 genomes]
rs7703543	0.87[ASN][1000 genomes]
rs7717767	0.89[ASN][1000 genomes]
rs9293277	0.89[ASN][1000 genomes]
rs9986216	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80779000-80830200	Weak transcription	Primary B cells from cord blood	blood
2	chr5:80779000-80834400	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:80797000-80834000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:80798200-80818000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:80798400-80820000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:80798400-80821400	Weak transcription	Thymus	Thymus
7	chr5:80798600-80826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:80802000-80819600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:80802600-80819800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:80803200-80834400	Weak transcription	Fetal Kidney	kidney
11	chr5:80803200-80835200	Weak transcription	GM12878-XiMat	blood
12	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
13	chr5:80808400-80815200	Weak transcription	Dnd41	blood
14	chr5:80808600-80818600	Weak transcription	Fetal Thymus	thymus
15	chr5:80809600-80820200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:80809800-80820000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:80811000-80816600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:80812400-80826600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr5:80812400-80829200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:80812600-80821400	Weak transcription	HSMM	muscle
21	chr5:80813200-80815200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:80813600-80818400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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