Variant report

Variant	rs4775967
Chromosome Location	chr15:51917211-51917212
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr15:51917067-51918028	GM12878	blood:	n/a	n/a
2	RUNX3	chr15:51917115-51917987	GM12878	blood:	n/a	n/a
3	SPI1	chr15:51917161-51918070	GM12878	blood:	n/a	n/a
4	EP300	chr15:51917196-51917964	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51914606..51918105-chr15:52309438..52311518,3	K562	blood:
2	chr15:51915397..51918003-chr15:52069309..52070981,2	MCF-7	breast:
3	chr15:51915278..51917337-chr15:51922529..51924335,2	K562	blood:
4	chr15:51693667..51695853-chr15:51915384..51917421,2	K562	blood:
5	chr15:51917039..51918667-chr15:51922203..51924591,2	MCF-7	breast:
6	chr15:51904892..51907829-chr15:51916271..51917973,2	MCF-7	breast:

No data

Variant related genes	Relation type
DMXL2	TF binding region
ENSG00000069956	Chromatin interaction
ENSG00000259438	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10467923	0.80[JPT][hapmap]
rs11070850	0.85[EUR][1000 genomes]
rs11070852	0.84[ASN][1000 genomes]
rs11070862	0.81[CHB][hapmap]
rs11855041	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12592390	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12592422	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12908028	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17704742	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1869930	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2124591	0.85[YRI][hapmap]
rs2414104	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2414108	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2607111	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2607113	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2607118	0.80[YRI][hapmap]
rs2622767	0.85[YRI][hapmap]
rs28362471	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34604744	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4359386	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4436729	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4462536	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4775945	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4775950	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6493498	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs6493502	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6493504	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7164999	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7176988	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8024233	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8025536	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8030113	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8030534	0.82[ASN][1000 genomes]
rs8034340	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs930919	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv904219	chr15:51851999-51977159	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
3	nsv457139	chr15:51854718-51977159	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
4	nsv569407	chr15:51854718-51977159	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
5	nsv569408	chr15:51867172-51946100	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4775967	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51915800-51918000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:51916000-51919200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:51916200-51918000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr15:51916400-51920600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr15:51916400-51921600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:51916600-51918200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr15:51916800-51917800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:51917000-51917400	Enhancers	Primary B cells from cord blood	blood
9	chr15:51917000-51920000	Weak transcription	K562	blood
10	chr15:51917200-51918000	Enhancers	Primary B cells from peripheral blood	blood
11	chr15:51917200-51918200	Flanking Active TSS	GM12878-XiMat	blood

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