Variant report

Variant	rs73493018
Chromosome Location	chr13:49174768-49174769
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs4151632	0.83[AFR][1000 genomes]
rs57800689	1.00[AFR][1000 genomes]
rs60240141	1.00[AFR][1000 genomes]
rs73479211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479235	0.83[AFR][1000 genomes]
rs73479241	0.83[AFR][1000 genomes]
rs73479247	0.83[AFR][1000 genomes]
rs73479252	0.83[AFR][1000 genomes]
rs73486810	0.83[AFR][1000 genomes]
rs73486817	0.83[AFR][1000 genomes]
rs73486823	0.83[AFR][1000 genomes]
rs73486824	0.83[AFR][1000 genomes]
rs73491100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492996	0.83[AFR][1000 genomes]
rs73493007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493070	1.00[AFR][1000 genomes]
rs73493076	1.00[AFR][1000 genomes]
rs73495021	0.83[AFR][1000 genomes]
rs73495107	1.00[AFR][1000 genomes]
rs73495121	1.00[AMR][1000 genomes]
rs9332028	1.00[AMR][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	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr13:49161400-49176400	Weak transcription	Right Ventricle	heart
2	chr13:49168200-49174800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:49168400-49175000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:49169800-49177800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:49170000-49174800	Weak transcription	HSMM	muscle
6	chr13:49170000-49176600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:49170400-49175200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:49170400-49176400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:49170400-49176600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr13:49173000-49174800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:49173200-49175000	Enhancers	Hela-S3	cervix
12	chr13:49173400-49174800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:49173800-49174800	Enhancers	Fetal Kidney	kidney
14	chr13:49173800-49174800	Enhancers	Dnd41	blood
15	chr13:49173800-49175800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:49173800-49176600	Enhancers	Ovary	ovary
17	chr13:49174000-49176800	Enhancers	Fetal Stomach	stomach
18	chr13:49174200-49175200	Weak transcription	Pancreas	Pancrea
19	chr13:49174200-49176800	Enhancers	NH-A	brain
20	chr13:49174200-49177400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr13:49174400-49174800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:49174400-49174800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:49174400-49174800	Enhancers	HUVEC	blood vessel
24	chr13:49174400-49177000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:49174600-49174800	Enhancers	Osteobl	bone
26	chr13:49174600-49175000	Enhancers	HepG2	liver
27	chr13:49174600-49175400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:49174600-49175400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:49174600-49175400	Enhancers	HSMMtube	muscle
30	chr13:49174600-49175800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:49174600-49175800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:49174600-49176000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:49174600-49177000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr13:49174600-49178000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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