Variant report

Variant	rs8027964
Chromosome Location	chr15:58335272-58335273
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	chr15:58335266-58335361	GM10248	blood:	n/a	n/a
4	RAD21	chr15:58335196-58335996	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr15:58335180-58335330	GM12871	blood:	n/a	n/a
6	CTCF	chr15:58335240-58335390	SAEC	small airway:	n/a	n/a
7	CTCF	chr15:58335160-58335310	AoAF	blood vessel:	n/a	n/a
8	CTCF	chr15:58334856-58336002	SK-N-SH	brain:	n/a	chr15:58335598-58335616 chr15:58335599-58335615 chr15:58335603-58335613
9	CTCF	chr15:58335140-58335290	GM12874	blood:	n/a	n/a
10	SMC3	chr15:58335166-58335963	SK-N-SH	brain:	n/a	chr15:58335600-58335607 chr15:58335600-58335614
11	CTCF	chr15:58335200-58335350	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr15:58335160-58335310	GM12870	blood:	n/a	n/a
13	CTCF	chr15:58335220-58335370	AG04449	skin:	n/a	n/a
14	CTCF	chr15:58335200-58335350	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:58335119..58336017-chr15:58474443..58475104,3	K562	blood:
2	chr15:58334091..58335713-chr15:58356061..58358629,2	K562	blood:
3	chr15:58243156..58245124-chr15:58334319..58337041,2	K562	blood:
4	chr15:58335159..58335715-chr15:58362599..58363285,2	K562	blood:
5	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: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10518961	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071363	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11071364	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11071367	0.91[ASN][1000 genomes]
rs11629553	0.83[ASN][1000 genomes]
rs11629583	0.90[ASN][1000 genomes]
rs11631127	0.90[ASN][1000 genomes]
rs11636979	0.94[ASN][1000 genomes]
rs11857465	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12148281	0.94[ASN][1000 genomes]
rs12324197	0.90[ASN][1000 genomes]
rs12594082	0.89[ASN][1000 genomes]
rs12595180	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12595410	0.94[ASN][1000 genomes]
rs12898976	0.94[ASN][1000 genomes]
rs12903724	0.94[ASN][1000 genomes]
rs12905608	0.94[ASN][1000 genomes]
rs12907125	0.96[ASN][1000 genomes]
rs12909423	0.94[ASN][1000 genomes]
rs12909865	0.94[ASN][1000 genomes]
rs12909979	0.83[ASN][1000 genomes]
rs12911450	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12912093	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12914388	0.94[ASN][1000 genomes]
rs12914414	0.98[ASN][1000 genomes]
rs12914455	0.94[ASN][1000 genomes]
rs12914603	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12915508	0.92[ASN][1000 genomes]
rs12915821	0.93[ASN][1000 genomes]
rs12915989	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12917536	0.94[ASN][1000 genomes]
rs1372369	0.94[ASN][1000 genomes]
rs1441815	0.91[ASN][1000 genomes]
rs1441829	0.94[ASN][1000 genomes]
rs17820966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17820990	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1822205	0.94[ASN][1000 genomes]
rs1837851	0.89[ASN][1000 genomes]
rs1899355	0.94[ASN][1000 genomes]
rs1994926	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994927	0.95[ASN][1000 genomes]
rs2044071	0.90[ASN][1000 genomes]
rs2067062	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2414527	0.83[ASN][1000 genomes]
rs2414529	0.94[ASN][1000 genomes]
rs2414530	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2642630	0.94[ASN][1000 genomes]
rs2642632	0.94[ASN][1000 genomes]
rs2704196	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2704197	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2704218	0.89[ASN][1000 genomes]
rs2704225	0.94[ASN][1000 genomes]
rs2899611	0.96[ASN][1000 genomes]
rs2899612	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899613	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs33960206	0.94[ASN][1000 genomes]
rs34226780	0.97[ASN][1000 genomes]
rs34556514	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34676542	0.98[ASN][1000 genomes]
rs34958088	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3784256	0.87[ASN][1000 genomes]
rs3784257	0.87[ASN][1000 genomes]
rs3784259	0.83[ASN][1000 genomes]
rs3784264	0.82[ASN][1000 genomes]
rs3809535	0.90[ASN][1000 genomes]
rs4144005	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4238327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553566	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646549	0.90[ASN][1000 genomes]
rs4646554	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4646555	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4646557	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4646559	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4646560	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4646564	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4646566	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4646570	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646579	0.98[ASN][1000 genomes]
rs4646580	0.98[ASN][1000 genomes]
rs4646581	0.94[ASN][1000 genomes]
rs4646582	0.94[ASN][1000 genomes]
rs4646584	0.94[ASN][1000 genomes]
rs4646588	0.95[ASN][1000 genomes]
rs4646589	0.94[ASN][1000 genomes]
rs4646590	0.94[ASN][1000 genomes]
rs4646592	0.94[ASN][1000 genomes]
rs4646594	0.94[ASN][1000 genomes]
rs4646595	0.94[ASN][1000 genomes]
rs4646596	0.94[ASN][1000 genomes]
rs4646597	0.94[ASN][1000 genomes]
rs4646598	0.96[ASN][1000 genomes]
rs4646600	0.93[ASN][1000 genomes]
rs4646602	0.94[ASN][1000 genomes]
rs4646603	0.95[ASN][1000 genomes]
rs4646605	0.94[ASN][1000 genomes]
rs4646606	0.97[ASN][1000 genomes]
rs4646607	0.92[ASN][1000 genomes]
rs4646609	0.92[ASN][1000 genomes]
rs4646623	0.82[ASN][1000 genomes]
rs4646625	0.83[ASN][1000 genomes]
rs4646626	0.83[ASN][1000 genomes]
rs57975858	0.90[ASN][1000 genomes]
rs6493977	0.96[ASN][1000 genomes]
rs6493978	0.96[ASN][1000 genomes]
rs6493979	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493980	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6493981	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs66971399	0.96[ASN][1000 genomes]
rs7171261	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7171714	0.94[ASN][1000 genomes]
rs7178598	0.94[ASN][1000 genomes]
rs7180059	0.94[ASN][1000 genomes]
rs8023769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026952	0.96[ASN][1000 genomes]
rs8027188	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032572	0.94[ASN][1000 genomes]
rs8041644	0.87[ASN][1000 genomes]
rs9635346	0.94[ASN][1000 genomes]
rs9635350	0.94[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58331600-58336000	Genic enhancers	K562	blood
2	chr15:58331800-58335800	Weak transcription	Fetal Stomach	stomach
3	chr15:58332200-58338200	Weak transcription	Fetal Intestine Large	intestine
4	chr15:58333200-58335600	Weak transcription	HMEC	breast
5	chr15:58333400-58336400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:58333800-58338200	Weak transcription	Fetal Intestine Small	intestine
7	chr15:58334800-58336400	Enhancers	Fetal Lung	lung
8	chr15:58335000-58335600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:58335000-58335800	Enhancers	Fetal Kidney	kidney
10	chr15:58335000-58336800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:58335200-58336200	Enhancers	Small Intestine	intestine

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