Variant report

Variant	rs7926131
Chromosome Location	chr11:64936650-64936651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr11:64936595-64937918	K562	blood:	n/a	n/a
2	GATA1	chr11:64935717-64937159	PBDE	blood:	n/a	n/a
3	YY1	chr11:64936594-64937137	K562	blood:	n/a	n/a
4	MAZ	chr11:64936591-64936931	K562	blood:	n/a	n/a
5	MYC	chr11:64936561-64937063	K562	blood:	n/a	n/a
6	POLR2A	chr11:64936618-64936817	Gliobla	brain:	n/a	n/a
7	POLR2A	chr11:64936586-64936718	HepG2	liver:	n/a	n/a
8	REST	chr11:64936557-64936815	K562	blood:	n/a	n/a
9	POLR2A	chr11:64936508-64937149	HUVEC	blood vessel:	n/a	n/a
10	CEBPB	chr11:64936552-64936925	K562	blood:	n/a	n/a
11	STAT5A	chr11:64936493-64936968	K562	blood:	n/a	chr11:64936565-64936577
12	POLR2A	chr11:64936502-64938167	K562	blood:	n/a	n/a
13	TAL1	chr11:64936503-64936957	K562	blood:	n/a	n/a
14	POLR2A	chr11:64936511-64937082	HUVEC	blood vessel:	n/a	n/a
15	TAF1	chr11:64936497-64937154	PFSK-1	brain:	n/a	n/a
16	MYC	chr11:64936635-64936910	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr11:64936447-64937143	GM12892	blood:	n/a	n/a
18	CBX3	chr11:64936387-64937137	K562	blood:	n/a	n/a
19	JUND	chr11:64936596-64937062	K562	blood:	n/a	n/a
20	MAX	chr11:64936547-64937102	K562	blood:	n/a	n/a
21	NR2F2	chr11:64935916-64938202	K562	blood:	n/a	n/a
22	EGR1	chr11:64936581-64937031	K562	blood:	n/a	n/a
23	POLR2A	chr11:64936625-64937073	GM12891	blood:	n/a	n/a
24	POLR2A	chr11:64936435-64937198	HUVEC	blood vessel:	n/a	n/a
25	UBTF	chr11:64936554-64937873	K562	blood:	n/a	n/a
26	POLR2A	chr11:64936590-64937032	GM12892	blood:	n/a	n/a
27	USF1	chr11:64936600-64937075	K562	blood:	n/a	n/a
28	PML	chr11:64936438-64937083	K562	blood:	n/a	n/a
29	POLR2A	chr11:64936480-64937247	PFSK-1	brain:	n/a	n/a
30	ZNF384	chr11:64936277-64936979	K562	blood:	n/a	n/a
31	POLR2A	chr11:64936389-64937220	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr11:64936596-64937979	K562	blood:	n/a	n/a
33	UBTF	chr11:64936577-64936936	K562	blood:	n/a	n/a
34	MAFK	chr11:64936627-64936974	K562	blood:	n/a	n/a
35	TBP	chr11:64936555-64938064	K562	blood:	n/a	n/a
36	HDAC2	chr11:64936525-64936948	K562	blood:	n/a	n/a
37	ELF1	chr11:64936547-64937103	K562	blood:	n/a	n/a
38	EP300	chr11:64936505-64937077	K562	blood:	n/a	n/a
39	BHLHE40	chr11:64936572-64937192	K562	blood:	n/a	n/a
40	TAF1	chr11:64936518-64937038	GM12891	blood:	n/a	n/a
41	RCOR1	chr11:64936610-64936971	K562	blood:	n/a	n/a
42	GABPA	chr11:64936477-64937109	K562	blood:	n/a	n/a
43	MYC	chr11:64936594-64936701	K562	blood:	n/a	n/a
44	MAX	chr11:64936457-64937238	K562	blood:	n/a	n/a
45	TEAD4	chr11:64936413-64937047	K562	blood:	n/a	n/a
46	CUX1	chr11:64936595-64937767	K562	blood:	n/a	n/a
47	POLR2A	chr11:64936450-64939452	K562	blood:	n/a	n/a
48	BCLAF1	chr11:64936429-64937072	K562	blood:	n/a	n/a
49	TAF1	chr11:64936570-64936953	GM12891	blood:	n/a	n/a
50	ZNF143	chr11:64936603-64936769	K562	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64899089..64905727-chr11:64934867..64942996,32	K562	blood:
2	chr11:64935468..64937068-chr11:64949314..64950978,2	MCF-7	breast:
3	chr11:64936336..64940512-chr11:64971358..64975789,6	K562	blood:
4	chr11:64917054..64918980-chr11:64934269..64937265,2	K562	blood:
5	chr11:64934217..64936652-chr11:65025702..65028546,2	K562	blood:
6	chr11:64912434..64914841-chr11:64936262..64938354,2	K562	blood:
7	chr11:64936254..64939202-chr11:65081037..65082812,2	K562	blood:
8	chr11:64888451..64891449-chr11:64936430..64939217,7	K562	blood:
9	chr11:64887671..64894047-chr11:64935608..64941283,15	K562	blood:
10	chr11:64934429..64937624-chr11:65263809..65266088,3	K562	blood:
11	chr11:64934664..64937564-chr11:64938431..64940801,2	MCF-7	breast:
12	chr11:64880606..64886969-chr11:64935331..64942091,20	K562	blood:
13	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
14	chr11:64899426..64901940-chr11:64936380..64938384,3	MCF-7	breast:
15	chr11:64936124..64937630-chr11:65263959..65266088,2	K562	blood:
16	chr11:64878261..64886969-chr11:64935331..64941944,21	K562	blood:
17	chr11:64806821..64808860-chr11:64936413..64939146,2	K562	blood:
18	chr11:64894864..64904857-chr11:64934599..64944069,37	K562	blood:
19	chr11:64642728..64645310-chr11:64936212..64940521,3	K562	blood:
20	chr11:64912189..64921319-chr11:64935429..64940801,16	K562	blood:
21	chr11:64849716..64853170-chr11:64935136..64939292,4	K562	blood:
22	chr11:64936062..64938583-chr11:64945871..64949706,4	MCF-7	breast:
23	chr11:64849716..64856389-chr11:64935136..64940419,9	K562	blood:

No data

Variant related genes	Relation type
SPDYC	TF binding region
ENSG00000254455	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000149823	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12271615	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs12279247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280476	0.87[AFR][1000 genomes]
rs12282348	1.00[AMR][1000 genomes]
rs12285030	0.87[AFR][1000 genomes]
rs12288247	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs12291307	0.84[AFR][1000 genomes]
rs35983251	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3782095	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs56368078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57731342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs586768	0.89[YRI][hapmap]
rs7110646	0.89[AFR][1000 genomes]
rs7935441	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7936473	0.88[YRI][hapmap];0.82[AFR][1000 genomes]

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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64927400-64948400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:64933400-64937200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:64933600-64948000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:64933800-64947600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:64933800-64947600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:64933800-64947600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:64933800-64948200	Weak transcription	Ovary	ovary
8	chr11:64934400-64947800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:64934600-64947800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:64935200-64937800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:64935800-64938600	Enhancers	Placenta	Placenta
12	chr11:64935800-64947600	Weak transcription	Liver	Liver
13	chr11:64936000-64937600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:64936000-64937800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:64936200-64936800	Enhancers	Primary hematopoietic stem cells	blood
16	chr11:64936200-64937200	Enhancers	GM12878-XiMat	blood
17	chr11:64936200-64937600	Enhancers	HUVEC	blood vessel
18	chr11:64936200-64937800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:64936400-64936800	Enhancers	Primary B cells from cord blood	blood
20	chr11:64936400-64937000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr11:64936400-64937200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:64936400-64937200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:64936400-64937200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:64936400-64937600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr11:64936400-64937600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:64936400-64937600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:64936400-64937600	Enhancers	Primary B cells from peripheral blood	blood
28	chr11:64936400-64937600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:64936400-64938000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:64936400-64938800	Flanking Active TSS	K562	blood
31	chr11:64936600-64936800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:64936600-64936800	Enhancers	Esophagus	oesophagus
33	chr11:64936600-64937000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr11:64936600-64937000	Enhancers	Fetal Lung	lung
35	chr11:64936600-64937000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr11:64936600-64937000	Enhancers	NHDF-Ad	bronchial
37	chr11:64936600-64937000	Enhancers	Osteobl	bone
38	chr11:64936600-64937200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr11:64936600-64937200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr11:64936600-64937200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:64936600-64937200	Enhancers	Fetal Thymus	thymus
42	chr11:64936600-64937200	Enhancers	HSMM	muscle
43	chr11:64936600-64937200	Enhancers	NH-A	brain
44	chr11:64936600-64937400	Flanking Active TSS	HepG2	liver
45	chr11:64936600-64937800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:64936600-64937800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:64936600-64938000	Enhancers	HUES6 Cell Line	embryonic stem cell

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