Variant report

Variant	rs60398658
Chromosome Location	chr6:24669742-24669743
allele	G/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	IRF1	chr6:24668580-24669888	K562	blood:	n/a	chr6:24669183-24669204

No.	Distal block	Cell Line	Cell type
1	chr6:24666490..24670247-chr6:24774150..24780460,9	K562	blood:
2	chr6:24665480..24670247-chr6:24773496..24779775,9	K562	blood:
3	chr6:24668894..24670488-chr6:24670506..24672451,2	K562	blood:
4	chr6:24660920..24672880-chr6:24713381..24723000,42	K562	blood:
5	chr6:24668887..24670760-chr6:26011483..26013160,2	K562	blood:
6	chr6:24661385..24670379-chr6:24713871..24722680,32	K562	blood:

Variant related genes	Relation type
TDP2	TF binding region
ENSG00000112308	Chromatin interaction
ENSG00000112312	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1061925	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17243157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60398658	ACOT13	cis	Thyroid	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24665800-24669800	Active TSS	A549	lung
2	chr6:24668000-24676000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:24668200-24670200	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr6:24668200-24674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:24668200-24699800	Weak transcription	Brain Substantia Nigra	brain
6	chr6:24668400-24671800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:24668600-24671000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:24668800-24669800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr6:24668800-24670200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr6:24668800-24670600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:24668800-24672400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr6:24668800-24691800	Weak transcription	Psoas Muscle	Psoas
13	chr6:24669000-24672800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:24669000-24673000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:24669000-24675800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:24669000-24681800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:24669000-24686400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:24669000-24690400	Weak transcription	Gastric	stomach
19	chr6:24669000-24693000	Weak transcription	Primary T cells from cord blood	blood
20	chr6:24669000-24701200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:24669200-24670800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:24669200-24675800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr6:24669200-24686200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:24669200-24690800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:24669400-24669800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:24669400-24669800	Active TSS	Hela-S3	cervix
27	chr6:24669400-24670000	Flanking Active TSS	Liver	Liver
28	chr6:24669400-24671200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:24669400-24687600	Weak transcription	Left Ventricle	heart
30	chr6:24669400-24701600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:24669600-24669800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:24669600-24670000	Flanking Active TSS	K562	blood
33	chr6:24669600-24671000	Weak transcription	Rectal Mucosa Donor 29	rectum

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