Variant report

Variant	rs17005276
Chromosome Location	chr4:122795015-122795016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr4:122794911-122795121	K562	blood:	n/a	n/a
2	EBF1	chr4:122794776-122795060	GM12878	blood:	n/a	n/a
3	SP1	chr4:122794731-122795016	GM12878	blood:	n/a	n/a
4	RCOR1	chr4:122794826-122795115	K562	blood:	n/a	n/a
5	TBL1XR1	chr4:122794908-122795090	K562	blood:	n/a	n/a
6	TEAD4	chr4:122794743-122795180	K562	blood:	n/a	n/a
7	NR2F2	chr4:122794705-122795243	K562	blood:	n/a	n/a
8	EP300	chr4:122794771-122795032	GM12878	blood:	n/a	n/a
9	EP300	chr4:122794709-122795033	GM12878	blood:	n/a	n/a
10	JUND	chr4:122794863-122795033	K562	blood:	n/a	n/a
11	BHLHE40	chr4:122794933-122795079	K562	blood:	n/a	n/a
12	TEAD4	chr4:122794818-122795135	K562	blood:	n/a	n/a
13	NR2F2	chr4:122794801-122795099	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122744717..122747414-chr4:122794817..122796838,3	K562	blood:

No data

Variant related genes	Relation type
BBS7	TF binding region
ENSG00000145386	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11930245	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11930756	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11933339	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11934168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942369	1.00[EUR][1000 genomes]
rs1507987	1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs1507988	0.83[AMR][1000 genomes]
rs17005269	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2661556	0.83[AMR][1000 genomes]
rs2706797	0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs3217770	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34669312	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3811743	0.83[AMR][1000 genomes]
rs4001033	0.83[AMR][1000 genomes]
rs4132552	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61639241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845842	1.00[EUR][1000 genomes]
rs72915930	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915936	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915942	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915943	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915958	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918000	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769235	0.83[ASW][hapmap];0.85[GIH][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769240	0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122792200-122796800	Weak transcription	NH-A	brain
2	chr4:122792200-122798200	Weak transcription	HUVEC	blood vessel
3	chr4:122792400-122802000	Weak transcription	Fetal Lung	lung
4	chr4:122794000-122795600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:122794200-122795400	Enhancers	NHDF-Ad	bronchial
6	chr4:122794200-122796000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:122794400-122795800	Enhancers	K562	blood
8	chr4:122794800-122795200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:122794800-122796200	Enhancers	Primary hematopoietic stem cells	blood
10	chr4:122795000-122798000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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