Variant report

Variant	rs73161519
Chromosome Location	chr13:30600635-30600636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr13:30600263-30600681	HUVEC	blood vessel:	n/a	chr13:30600418-30600429
2	MXI1	chr13:30599591-30601296	IMR90	lung:	n/a	n/a
3	NFIC	chr13:30600162-30600698	SK-N-SH	brain:	n/a	n/a
4	RAD21	chr13:30600179-30600663	IMR90	lung:	n/a	chr13:30600239-30600253

Variant related genes	Relation type
ENSG00000266505	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs17503526	0.82[AMR][1000 genomes]
rs17503533	0.82[AMR][1000 genomes]
rs17504027	0.82[AMR][1000 genomes]
rs17504394	1.00[ASN][1000 genomes]
rs17587784	1.00[ASN][1000 genomes]
rs17588071	0.82[AMR][1000 genomes]
rs17588196	0.82[AMR][1000 genomes]
rs17588286	0.82[AMR][1000 genomes]
rs17588314	0.82[AMR][1000 genomes]
rs17588510	0.82[AMR][1000 genomes]
rs55708888	0.82[AMR][1000 genomes]
rs55734322	0.82[AMR][1000 genomes]
rs55741316	0.82[AMR][1000 genomes]
rs55772458	0.82[AMR][1000 genomes]
rs55804174	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55837941	0.82[AMR][1000 genomes]
rs55922204	0.82[AMR][1000 genomes]
rs55951457	0.82[AMR][1000 genomes]
rs55966797	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56126555	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56399700	0.82[AMR][1000 genomes]
rs56409314	0.82[AMR][1000 genomes]
rs73159320	0.82[AMR][1000 genomes]
rs73159321	0.82[AMR][1000 genomes]
rs73159339	0.82[AMR][1000 genomes]
rs73159340	0.82[AMR][1000 genomes]
rs73159349	0.82[AMR][1000 genomes]
rs73159358	0.82[AMR][1000 genomes]
rs73159360	0.82[AMR][1000 genomes]
rs73159365	0.82[AMR][1000 genomes]
rs73159366	0.82[AMR][1000 genomes]
rs73159371	0.82[AMR][1000 genomes]
rs73159389	0.82[AMR][1000 genomes]
rs73159397	0.82[AMR][1000 genomes]
rs73161503	0.82[AMR][1000 genomes]
rs73161515	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161517	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73448295	1.00[ASN][1000 genomes]
rs74042848	1.00[ASN][1000 genomes]
rs74043025	1.00[ASN][1000 genomes]
rs9579516	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579518	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9579519	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9579520	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3410550	chr13:30598652-30602150	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30593200-30606600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr13:30595200-30612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:30598600-30601000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:30598600-30605000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:30599200-30600800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:30599200-30602800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:30599200-30602800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:30599200-30602800	Enhancers	NHDF-Ad	bronchial
9	chr13:30599200-30602800	Enhancers	Osteobl	bone
10	chr13:30599400-30600800	Enhancers	NHLF	lung
11	chr13:30599400-30601200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:30599400-30602600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr13:30599600-30600800	Enhancers	Adipose Nuclei	Adipose
14	chr13:30599600-30601000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:30599800-30611600	Weak transcription	Fetal Brain Male	brain
16	chr13:30600000-30600800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:30600000-30600800	Enhancers	HSMM	muscle
18	chr13:30600000-30600800	Enhancers	HSMMtube	muscle
19	chr13:30600000-30600800	Enhancers	NH-A	brain
20	chr13:30600200-30600800	Enhancers	HUVEC	blood vessel
21	chr13:30600400-30602600	Enhancers	HepG2	liver
22	chr13:30600600-30601800	Enhancers	Fetal Intestine Small	intestine
23	chr13:30600600-30602000	Enhancers	Fetal Intestine Large	intestine

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