Variant report

Variant	rs72645994
Chromosome Location	chr13:94889976-94889977
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17253738	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17253766	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3891616	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6492697	0.86[ASN][1000 genomes]
rs72645996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs879514	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs879515	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs944840	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9516367	0.82[EUR][1000 genomes]
rs9516369	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9516370	0.93[ASN][1000 genomes]
rs9524372	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9524379	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9524381	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9524384	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9524385	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9524386	0.82[AMR][1000 genomes];0.95[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	nsv948455	chr13:94451368-94988900	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv430599	chr13:94699399-94934930	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv933263	chr13:94711183-94897124	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv562754	chr13:94770794-94895346	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94886400-94891000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:94886400-94891000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:94886400-94891000	Weak transcription	HMEC	breast
4	chr13:94886400-94891200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:94886600-94890800	Weak transcription	NHDF-Ad	bronchial
6	chr13:94886600-94891200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:94886600-94892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:94887200-94891000	Weak transcription	HSMMtube	muscle
9	chr13:94887200-94891400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:94888000-94890200	Enhancers	Fetal Intestine Small	intestine
11	chr13:94888200-94890200	Enhancers	Primary hematopoietic stem cells	blood
12	chr13:94888200-94890200	Enhancers	Fetal Intestine Large	intestine
13	chr13:94888400-94890400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:94888400-94893600	Enhancers	Primary T cells from cord blood	blood
15	chr13:94888600-94890000	Enhancers	Primary B cells from peripheral blood	blood
16	chr13:94888600-94890200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr13:94888600-94892600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr13:94888600-94892600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr13:94888800-94891800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr13:94889000-94890000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr13:94889000-94890000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr13:94889000-94892200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr13:94889000-94892600	Enhancers	Fetal Thymus	thymus
24	chr13:94889400-94890400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr13:94889400-94890800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:94889400-94891200	Weak transcription	HSMM	muscle
27	chr13:94889400-94891200	Weak transcription	Osteobl	bone
28	chr13:94889600-94890600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr13:94889600-94890600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr13:94889600-94891000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:94889600-94891200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:94889600-94892400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr13:94889800-94891000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr13:94889800-94891000	Weak transcription	Thymus	Thymus
35	chr13:94889800-94891200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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