Variant report

Variant	rs73485044
Chromosome Location	chr13:48798732-48798733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs7332376	1.00[EUR][1000 genomes]
rs73485047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485054	1.00[EUR][1000 genomes]
rs73485057	1.00[EUR][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	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1043294	chr13:48762477-48810028	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48796000-48806800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:48797000-48798800	Weak transcription	Fetal Kidney	kidney
3	chr13:48797200-48801800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:48797200-48806200	Weak transcription	Ovary	ovary
5	chr13:48797400-48799200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr13:48797400-48799600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr13:48797400-48803600	Weak transcription	Fetal Intestine Large	intestine
8	chr13:48797400-48804400	Weak transcription	Fetal Intestine Small	intestine
9	chr13:48797400-48806200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr13:48797800-48806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:48798200-48799200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr13:48798400-48798800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr13:48798400-48798800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr13:48798400-48799000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr13:48798400-48799000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:48798400-48799200	Enhancers	Primary T cells from cord blood	blood
17	chr13:48798400-48799200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr13:48798400-48799400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr13:48798400-48799600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr13:48798400-48799600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr13:48798600-48799000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr13:48798600-48799200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr13:48798600-48799400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr13:48798600-48799400	Enhancers	HepG2	liver
25	chr13:48798600-48799600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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