Variant report

Variant	rs2475152
Chromosome Location	chr1:226205969-226205970
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226199050..226201994-chr1:226204544..226206828,2	MCF-7	breast:
2	chr1:226204895..226209098-chr1:226249962..226252500,5	K562	blood:
3	chr1:226186179..226191581-chr1:226205120..226212715,10	K562	blood:
4	chr1:226204301..226206286-chr1:226208154..226209970,2	K562	blood:
5	chr1:226203798..226206623-chr1:226296262..226299570,3	K562	blood:
6	chr1:226205374..226207689-chr1:226223509..226225038,2	MCF-7	breast:
7	chr1:226203828..226207254-chr1:226210846..226213175,3	K562	blood:
8	chr1:226205369..226210756-chr1:226213268..226218237,7	K562	blood:

No data

No data

No data

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10915916	0.88[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11583426	0.90[AMR][1000 genomes]
rs2180421	0.92[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs2749698	0.85[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2816329	0.88[CEU][hapmap]
rs2816330	0.88[CEU][hapmap]
rs4653701	0.88[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4653702	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6664468	0.85[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.87[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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2475152	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226203400-226207200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:226204200-226206000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:226204600-226210600	Weak transcription	Colonic Mucosa	Colon
4	chr1:226205000-226208400	Weak transcription	K562	blood
5	chr1:226205000-226209000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:226205200-226206400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:226205200-226206400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:226205200-226208400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:226205600-226209000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:226205600-226215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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