Variant report

Variant	rs11619623
Chromosome Location	chr13:30600370-30600371
allele	A/G
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	CEBPB	chr13:30600332-30600578	IMR90	lung:	n/a	n/a
3	MXI1	chr13:30599591-30601296	IMR90	lung:	n/a	n/a
4	NFIC	chr13:30600162-30600698	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr13:30600179-30600663	IMR90	lung:	n/a	chr13:30600239-30600253
6	MYC	chr13:30600322-30600484	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr13:30600248-30600583	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000266505	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11616638	0.83[EUR][1000 genomes]
rs11617134	0.83[EUR][1000 genomes]
rs11620285	0.83[EUR][1000 genomes]
rs12428597	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17588454	0.83[EUR][1000 genomes]
rs59372413	0.83[EUR][1000 genomes]
rs60452760	0.83[EUR][1000 genomes]
rs73159380	0.83[EUR][1000 genomes]
rs73159381	0.83[EUR][1000 genomes]
rs73159382	0.83[EUR][1000 genomes]
rs73159383	0.83[EUR][1000 genomes]
rs73159384	0.83[EUR][1000 genomes]
rs73161505	0.83[EUR][1000 genomes]
rs73161506	0.83[EUR][1000 genomes]
rs73161518	0.98[ASN][1000 genomes]
rs7317000	0.83[EUR][1000 genomes]
rs753801	0.90[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30592200-30600600	Weak transcription	Right Atrium	heart
2	chr13:30593200-30606600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:30595200-30612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:30597600-30600600	Weak transcription	Fetal Intestine Large	intestine
5	chr13:30598200-30600400	Weak transcription	HepG2	liver
6	chr13:30598200-30600600	Weak transcription	Fetal Intestine Small	intestine
7	chr13:30598600-30601000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:30598600-30605000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:30599200-30600800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:30599200-30602800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:30599200-30602800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:30599200-30602800	Enhancers	NHDF-Ad	bronchial
13	chr13:30599200-30602800	Enhancers	Osteobl	bone
14	chr13:30599400-30600800	Enhancers	NHLF	lung
15	chr13:30599400-30601200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:30599400-30602600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:30599600-30600800	Enhancers	Adipose Nuclei	Adipose
18	chr13:30599600-30601000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:30599800-30611600	Weak transcription	Fetal Brain Male	brain
20	chr13:30600000-30600800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:30600000-30600800	Enhancers	HSMM	muscle
22	chr13:30600000-30600800	Enhancers	HSMMtube	muscle
23	chr13:30600000-30600800	Enhancers	NH-A	brain
24	chr13:30600200-30600800	Enhancers	HUVEC	blood vessel

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