Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr11:64266774-64268463	NB4	blood:	n/a	chr11:64267880-64267889 chr11:64267880-64267889 chr11:64267880-64267889 chr11:64267878-64267891
2	ZMIZ1	chr11:64267118-64267301	K562	blood:	n/a	n/a
3	POLR2A	chr11:64266616-64268586	HL-60	blood:	n/a	n/a
4	POLR2A	chr11:64266613-64268642	HL-60	blood:	n/a	n/a
5	MAX	chr11:64266751-64268487	NB4	blood:	n/a	chr11:64267880-64267889 chr11:64267880-64267889 chr11:64267880-64267889 chr11:64267878-64267891
6	POLR2A	chr11:64266826-64268672	K562	blood:	n/a	n/a
7	REST	chr11:64266756-64267594	HL-60	blood:	n/a	n/a
8	EP300	chr11:64267152-64267457	K562	blood:	n/a	n/a
9	POLR2A	chr11:64266728-64268547	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64256445..64261724-chr11:64264321..64268271,6	K562	blood:

Variant related genes	Relation type
ENSG00000232500	TF binding region

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10736732	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10751010	1.00[MEX][hapmap]
rs1207462	1.00[MEX][hapmap]
rs1212851	1.00[MEX][hapmap]
rs12272361	1.00[EUR][1000 genomes]
rs12294207	1.00[MEX][hapmap]
rs17146119	1.00[MEX][hapmap]
rs17159320	1.00[MEX][hapmap]
rs17159321	1.00[MEX][hapmap]
rs240690	1.00[MEX][hapmap]
rs470348	1.00[MEX][hapmap]
rs475704	1.00[MEX][hapmap]
rs4930400	1.00[EUR][1000 genomes]
rs497544	1.00[MEX][hapmap]
rs512926	1.00[MEX][hapmap]
rs519106	1.00[MEX][hapmap]
rs534052	1.00[MEX][hapmap]
rs535606	1.00[MEX][hapmap]
rs545819	1.00[MEX][hapmap]
rs558073	1.00[MEX][hapmap]
rs605597	1.00[MEX][hapmap]
rs61885698	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61885700	1.00[EUR][1000 genomes]
rs6591856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7112387	1.00[EUR][1000 genomes]
rs7115332	1.00[EUR][1000 genomes]
rs7123003	1.00[MEX][hapmap]
rs73490282	1.00[EUR][1000 genomes]
rs73490294	1.00[EUR][1000 genomes]
rs7944545	1.00[EUR][1000 genomes]
rs7948607	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1035485	chr11:64228847-64354869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10751011	CRYL1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64265000-64268000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:64265400-64267200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:64265400-64269200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr11:64265800-64267600	Enhancers	Fetal Thymus	thymus
5	chr11:64265800-64268200	Enhancers	Primary hematopoietic stem cells	blood
6	chr11:64266000-64267400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:64266000-64271600	Weak transcription	Spleen	Spleen
8	chr11:64266800-64267400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr11:64266800-64267400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:64266800-64268000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:64266800-64269200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:64267000-64267200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:64267000-64267400	Flanking Active TSS	K562	blood
14	chr11:64267000-64268000	Enhancers	Sigmoid Colon	Sigmoid Colon

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