Variant report

Variant	rs4646578
Chromosome Location	chr15:58329927-58329928
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	TBL1XR1	chr15:58329892-58330753	K562	blood:	n/a	n/a
3	EBF1	chr15:58329852-58330276	GM12878	blood:	n/a	chr15:58330135-58330145 chr15:58330135-58330146

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58328560..58331091-chr15:58356467..58358929,2	K562	blood:

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

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1125360	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12591551	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12591715	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12591835	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12592533	0.80[AMR][1000 genomes]
rs12592773	0.80[AMR][1000 genomes]
rs12592810	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12595264	0.80[AMR][1000 genomes]
rs16939707	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16939727	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16939733	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16977865	0.82[CEU][hapmap];0.90[CHB][hapmap];0.80[AMR][1000 genomes]
rs16977883	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1837850	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1874157	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874158	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34165083	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35016264	0.80[AMR][1000 genomes]
rs35056852	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35912910	0.80[AMR][1000 genomes]
rs3825778	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4646561	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4646565	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4646574	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4646583	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646587	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4646591	0.90[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4646601	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646608	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4646618	0.81[CHB][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4646623	0.86[CHB][hapmap]
rs4646632	0.81[CHB][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4646637	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs4646643	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs4646644	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs55723752	0.80[AMR][1000 genomes]
rs55757800	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55866609	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56141372	0.80[AMR][1000 genomes]
rs56183601	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56280454	0.80[AMR][1000 genomes]
rs7178015	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74017096	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7495284	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041300	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58327200-58330400	Weak transcription	HMEC	breast
2	chr15:58327400-58330600	Weak transcription	NHEK	skin
3	chr15:58327400-58331000	Weak transcription	Psoas Muscle	Psoas
4	chr15:58328400-58332800	Enhancers	Fetal Kidney	kidney
5	chr15:58328800-58331200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr15:58328800-58332800	Enhancers	HUVEC	blood vessel
7	chr15:58328800-58333400	Enhancers	Fetal Lung	lung
8	chr15:58328800-58333800	Enhancers	Fetal Intestine Small	intestine
9	chr15:58329000-58330200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:58329000-58331200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr15:58329200-58330000	Enhancers	K562	blood
12	chr15:58329400-58330600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:58329800-58331200	Enhancers	Duodenum Mucosa	Duodenum
14	chr15:58329800-58331800	Enhancers	Stomach Mucosa	stomach
15	chr15:58329800-58332200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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