Variant report

Variant	rs12591835
Chromosome Location	chr15:58334909-58334910
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	POLR2A	chr15:58326537-58337408	K562	blood:	n/a	n/a
2	CTCF	chr15:58334877-58335904	A549	lung:	n/a	chr15:58335598-58335616 chr15:58335599-58335615 chr15:58335603-58335613
3	CTCF	chr15:58334820-58334970	NHDF-neo	bronchial:	n/a	n/a
4	CTCF	chr15:58334880-58335030	AG09309	skin:	n/a	n/a
5	CTCF	chr15:58334840-58334990	HMF	breast:	n/a	n/a
6	CTCF	chr15:58334856-58336002	SK-N-SH	brain:	n/a	chr15:58335598-58335616 chr15:58335599-58335615 chr15:58335603-58335613
7	CTCF	chr15:58334880-58335030	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:58334091..58335713-chr15:58356061..58358629,2	K562	blood:
2	chr15:58243156..58245124-chr15:58334319..58337041,2	K562	blood:
3	chr15:58261234..58263951-chr15:58334442..58336096,2	K562	blood:

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000259285	Chromatin interaction
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10518951	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1078777	0.85[EUR][1000 genomes]
rs1125360	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12591551	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12591715	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12592533	0.91[AMR][1000 genomes]
rs12592773	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12592810	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12593050	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12593414	0.85[EUR][1000 genomes]
rs12594689	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12595264	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1372367	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16939707	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16939727	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16939733	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16953355	0.81[EUR][1000 genomes]
rs16977858	0.87[EUR][1000 genomes]
rs16977861	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16977865	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16977883	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1837850	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1874157	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1874158	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34165083	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35016264	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35056852	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35385267	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35912910	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3825778	0.85[ASN][1000 genomes]
rs4646561	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4646565	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4646574	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4646578	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646583	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4646587	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646591	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4646601	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646608	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4646618	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4646632	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4646637	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4646643	0.81[AMR][1000 genomes]
rs55723752	0.91[AMR][1000 genomes]
rs55757800	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55866609	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56066922	0.85[EUR][1000 genomes]
rs56141372	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56183601	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56280454	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56404147	0.87[EUR][1000 genomes]
rs7161823	0.85[EUR][1000 genomes]
rs7178015	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74017072	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74017096	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7495284	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8041300	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv833023	chr15:58161839-58340174	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv904261	chr15:58258424-58347260	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58331000-58335000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:58331400-58335000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:58331600-58336000	Genic enhancers	K562	blood
4	chr15:58331800-58335800	Weak transcription	Fetal Stomach	stomach
5	chr15:58332200-58338200	Weak transcription	Fetal Intestine Large	intestine
6	chr15:58332800-58335000	Weak transcription	Fetal Kidney	kidney
7	chr15:58333200-58335600	Weak transcription	HMEC	breast
8	chr15:58333400-58336400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:58333600-58335200	Weak transcription	Small Intestine	intestine
10	chr15:58333800-58338200	Weak transcription	Fetal Intestine Small	intestine
11	chr15:58334000-58335000	Enhancers	HUVEC	blood vessel
12	chr15:58334800-58336400	Enhancers	Fetal Lung	lung

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