Variant report

Variant	rs7929591
Chromosome Location	chr11:5150372-5150373
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	MAFK	chr11:5150316-5150498	K562	blood:	n/a	n/a
2	JUN	chr11:5149864-5151222	K562	blood:	n/a	chr11:5150337-5150348 chr11:5150764-5150772
3	TBL1XR1	chr11:5150251-5150989	K562	blood:	n/a	n/a
4	EP300	chr11:5150046-5151221	K562	blood:	n/a	n/a
5	CEBPB	chr11:5150229-5151243	K562	blood:	n/a	chr11:5150735-5150746
6	TEAD4	chr11:5150234-5151270	K562	blood:	n/a	n/a
7	CUX1	chr11:5150326-5151115	K562	blood:	n/a	n/a
8	UBTF	chr11:5150360-5150411	K562	blood:	n/a	n/a
9	CTCF	chr11:5150253-5150474	K562	blood:	n/a	n/a
10	JUN	chr11:5150349-5150980	K562	blood:	n/a	chr11:5150764-5150772
11	TEAD4	chr11:5150356-5151268	K562	blood:	n/a	n/a
12	MYC	chr11:5150337-5151278	K562	blood:	n/a	chr11:5150738-5150747
13	CEBPB	chr11:5150241-5150936	Hela-S3	cervix:	n/a	chr11:5150735-5150746
14	UBTF	chr11:5150261-5151147	K562	blood:	n/a	n/a
15	ZC3H11A	chr11:5150235-5150386	K562	blood:	n/a	n/a
16	MYC	chr11:5150302-5151253	K562	blood:	n/a	chr11:5150738-5150747
17	GATA1	chr11:5150213-5151210	PBDE	blood:	n/a	chr11:5150762-5150771 chr11:5150802-5150813
18	GATA1	chr11:5149914-5151374	K562	blood:	n/a	chr11:5150762-5150771 chr11:5150802-5150813
19	RCOR1	chr11:5150235-5151135	K562	blood:	n/a	n/a
20	ARID3A	chr11:5150153-5151193	K562	blood:	n/a	n/a
21	CEBPB	chr11:5150320-5151240	K562	blood:	n/a	chr11:5150735-5150746

No.	Distal block	Cell Line	Cell type
1	chr11:5111907..5114090-chr11:5149445..5151800,2	K562	blood:
2	chr11:5150178..5155699-chr11:5220911..5225581,8	K562	blood:
3	chr11:5149697..5151826-chr11:5212442..5214718,2	K562	blood:
4	chr11:5149232..5151969-chr11:5305732..5307416,2	K562	blood:
5	chr11:5149389..5153211-chr11:5272377..5275357,4	K562	blood:
6	chr11:5149719..5151749-chr11:5525056..5527952,2	K562	blood:
7	11:5146608-5154908..11:5349791-5355747	K562	blood:
8	chr11:5140099..5148928-chr11:5149317..5155604,15	K562	blood:

Variant related genes	Relation type
OR52A4	TF binding region
ENSG00000167355	Chromatin interaction
ENSG00000196565	Chromatin interaction
ENSG00000176742	Chromatin interaction
ENSG00000236359	Chromatin interaction
ENSG00000213931	Chromatin interaction
ENSG00000205494	Chromatin interaction
ENSG00000226157	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16908114	1.00[MEX][hapmap]
rs59398809	0.87[AMR][1000 genomes]
rs7120391	1.00[MEX][hapmap]
rs7927066	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv1046693	chr11:4958462-5177455	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv540938	chr11:4958462-5177455	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	esv2760169	chr11:4961518-5233821	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv553219	chr11:5026200-5214413	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv896920	chr11:5068137-5221825	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv896923	chr11:5091882-5199208	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv896924	chr11:5098714-5221825	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv553222	chr11:5102476-5151516	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv467668	chr11:5138733-5207389	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
11	nsv553224	chr11:5138733-5207389	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
12	nsv896925	chr11:5140977-5221825	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
13	nsv896926	chr11:5143309-5170510	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5150200-5151000	Flanking Active TSS	K562	blood

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