Variant report

Variant	rs9854145
Chromosome Location	chr3:87846099-87846100
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	GATA1	chr3:87844998-87846134	K562	blood:	n/a	chr3:87845080-87845090
2	CUX1	chr3:87845132-87846197	K562	blood:	n/a	n/a
3	IRF1	chr3:87844765-87846951	K562	blood:	n/a	chr3:87845161-87845172 chr3:87846674-87846687
4	GATA1	chr3:87844963-87846100	PBDE	blood:	n/a	chr3:87845080-87845090
5	IRF1	chr3:87844974-87847445	K562	blood:	n/a	chr3:87845161-87845172 chr3:87846674-87846687
6	TBL1XR1	chr3:87844905-87846248	K562	blood:	n/a	n/a
7	IRF1	chr3:87845200-87846194	K562	blood:	n/a	n/a
8	EP300	chr3:87844583-87846481	K562	blood:	n/a	chr3:87844678-87844688 chr3:87845051-87845065 chr3:87845014-87845022
9	EP300	chr3:87845190-87846141	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:87845525..87848228-chr3:87871993..87873515,2	K562	blood:
2	chr3:87843885..87846211-chr3:87904754..87906414,2	K562	blood:

Variant related genes	Relation type
ENSG00000239572	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1021845	1.00[ASN][1000 genomes]
rs1158019	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1489775	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503431	1.00[ASN][1000 genomes]
rs1503435	1.00[ASN][1000 genomes]
rs1602153	1.00[ASN][1000 genomes]
rs1812620	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844432	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844433	1.00[ASN][1000 genomes]
rs1897237	1.00[ASN][1000 genomes]
rs1910400	1.00[ASN][1000 genomes]
rs2130347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2130349	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28690491	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919237	1.00[ASN][1000 genomes]
rs2919239	1.00[ASN][1000 genomes]
rs2919245	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919246	1.00[ASN][1000 genomes]
rs2919247	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919256	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919257	1.00[ASN][1000 genomes]
rs2919259	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932266	1.00[ASN][1000 genomes]
rs2932267	1.00[ASN][1000 genomes]
rs2932269	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932271	1.00[ASN][1000 genomes]
rs2932287	1.00[ASN][1000 genomes]
rs2932297	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932308	1.00[ASN][1000 genomes]
rs2938281	1.00[ASN][1000 genomes]
rs59395828	1.00[ASN][1000 genomes]
rs6774364	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6777373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787171	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6790616	1.00[ASN][1000 genomes]
rs6796732	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6807498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911631	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641305	1.00[ASN][1000 genomes]
rs9816019	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv590918	chr3:87323334-87910931	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv877142	chr3:87630433-87854277	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv877143	chr3:87630433-87860130	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv834756	chr3:87763793-87938179	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1009981	chr3:87821573-88003956	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv536634	chr3:87821573-88003956	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87842000-87846200	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr3:87842600-87851000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:87843000-87850400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:87843200-87847200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:87843200-87848200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:87844600-87846600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:87844600-87847600	Enhancers	Thymus	Thymus
8	chr3:87845200-87846200	Enhancers	Primary B cells from cord blood	blood
9	chr3:87845200-87846400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr3:87845400-87846200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr3:87845600-87847000	Active TSS	K562	blood
12	chr3:87845600-87855800	Weak transcription	A549	lung
13	chr3:87845800-87846200	Active TSS	NHDF-Ad	bronchial
14	chr3:87846000-87846400	Active TSS	Primary hematopoietic stem cells short term culture	blood

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