Variant report

Variant	rs17504075
Chromosome Location	chr13:30599579-30599580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2388378	1.00[ASN][1000 genomes]
rs2388379	1.00[CHB][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[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	chr13:30592200-30600600	Weak transcription	Right Atrium	heart
2	chr13:30593200-30606600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:30593800-30600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:30595200-30612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:30595400-30599600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:30595800-30600000	Weak transcription	HSMM	muscle
7	chr13:30596000-30600000	Weak transcription	HSMMtube	muscle
8	chr13:30597600-30600600	Weak transcription	Fetal Intestine Large	intestine
9	chr13:30598200-30600400	Weak transcription	HepG2	liver
10	chr13:30598200-30600600	Weak transcription	Fetal Intestine Small	intestine
11	chr13:30598600-30601000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:30598600-30605000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:30599000-30599800	Enhancers	Brain Anterior Caudate	brain
14	chr13:30599000-30600000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:30599200-30599600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr13:30599200-30600800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:30599200-30602800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:30599200-30602800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:30599200-30602800	Enhancers	NHDF-Ad	bronchial
20	chr13:30599200-30602800	Enhancers	Osteobl	bone
21	chr13:30599400-30600800	Enhancers	NHLF	lung
22	chr13:30599400-30601200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:30599400-30602600	Enhancers	Muscle Satellite Cultured Cells	--

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