Variant report

Variant	rs8006946
Chromosome Location	chr14:96893672-96893673
allele	C/G
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	SPI1	chr14:96893571-96894235	HL-60	blood:	n/a	n/a
2	SPI1	chr14:96893573-96893820	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
PEBP1P1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10129237	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10143377	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10149348	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11160339	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11844986	0.86[AFR][1000 genomes]
rs11851943	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12323526	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12323934	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2150311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28403222	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28675692	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4491437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58118443	0.89[AMR][1000 genomes]
rs7140228	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7149243	0.89[AMR][1000 genomes]
rs7151821	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086482	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086484	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086492	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090306	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8004363	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8007005	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010890	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8011245	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8018645	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8023242	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043142	chr14:96096263-96978016	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv542177	chr14:96096263-96978016	Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv530800	chr14:96253695-96920094	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv482589	chr14:96805418-96985830	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv565649	chr14:96843590-96919620	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	nsv902211	chr14:96864309-96986153	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	esv3442210	chr14:96878392-97038700	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96890800-96903000	Weak transcription	Pancreas	Pancrea
2	chr14:96893200-96894200	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:96893600-96893800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:96893600-96893800	Active TSS	Monocytes-CD14+_RO01746	blood
5	chr14:96893600-96894200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:96893600-96894200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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