Variant report

Variant	rs11740266
Chromosome Location	chr5:40756395-40756396
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:232)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:232 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr5:40755805-40756494	GM12878	blood:	n/a	n/a
2	BACH1	chr5:40755193-40756424	H1-hESC	embryonic stem cell:	n/a	n/a
3	TRIM28	chr5:40755643-40756536	K562	blood:	n/a	n/a
4	MAX	chr5:40755958-40756631	K562	blood:	n/a	n/a
5	MYC	chr5:40755061-40756695	NB4	blood:	n/a	n/a
6	HMGN3	chr5:40755218-40756443	K562	blood:	n/a	n/a
7	MXI1	chr5:40755932-40756671	K562	blood:	n/a	n/a
8	RCOR1	chr5:40754295-40756599	Hela-S3	cervix:	n/a	n/a
9	EGR1	chr5:40755856-40756545	MCF-7	breast:	n/a	chr5:40756407-40756417
10	MAX	chr5:40755785-40756472	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYBL2	chr5:40755671-40756497	HepG2	liver:	n/a	n/a
12	GATA1	chr5:40755625-40756458	PBDE	blood:	n/a	n/a
13	BRCA1	chr5:40755789-40756411	Hela-S3	cervix:	n/a	n/a
14	MXI1	chr5:40754160-40756692	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr5:40755742-40756422	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr5:40755487-40756531	HL-60	blood:	n/a	n/a
17	POLR2A	chr5:40755081-40756575	PANC-1	pancreas:	n/a	n/a
18	BACH1	chr5:40755979-40756475	K562	blood:	n/a	n/a
19	CREB1	chr5:40755057-40756506	HepG2	liver:	n/a	n/a
20	PML	chr5:40755206-40756544	K562	blood:	n/a	n/a
21	JUND	chr5:40754622-40756567	K562	blood:	n/a	n/a
22	SIX5	chr5:40755021-40756541	A549	lung:	n/a	n/a
23	E2F6	chr5:40755989-40756539	K562	blood:	n/a	chr5:40756176-40756187
24	YY1	chr5:40755441-40756403	HepG2	liver:	n/a	chr5:40755827-40755841 chr5:40755639-40755650
25	CHD2	chr5:40755818-40756529	H1-hESC	embryonic stem cell:	n/a	chr5:40756413-40756423
26	CTCF	chr5:40755663-40756500	HCT-116	colon:	n/a	n/a
27	ZNF384	chr5:40755980-40756709	K562	blood:	n/a	n/a
28	EGR1	chr5:40755762-40756417	H1-hESC	embryonic stem cell:	n/a	chr5:40755782-40755797 chr5:40756407-40756417
29	MXI1	chr5:40754683-40756614	IMR90	lung:	n/a	n/a
30	MAX	chr5:40755908-40756434	GM12878	blood:	n/a	n/a
31	CTCF	chr5:40756376-40756478	GM12892	blood:	n/a	n/a
32	MAX	chr5:40755715-40756596	ECC-1	luminal epithelium:	n/a	n/a
33	BCL3	chr5:40755583-40756530	A549	lung:	n/a	chr5:40755643-40755656
34	CEBPB	chr5:40755870-40756566	K562	blood:	n/a	n/a
35	POLR2A	chr5:40755143-40756405	Hela-S3	cervix:	n/a	n/a
36	MAX	chr5:40755738-40756436	MCF-7	breast:	n/a	n/a
37	FOSL2	chr5:40755496-40756437	A549	lung:	n/a	n/a
38	EGR1	chr5:40755880-40756520	K562	blood:	n/a	chr5:40756407-40756417
39	CTCF	chr5:40754660-40756871	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr5:40755042-40756743	SK-N-MC	brain:	n/a	n/a
41	E2F4	chr5:40755820-40756429	K562	blood:	n/a	chr5:40756176-40756187
42	MAX	chr5:40755896-40756634	MCF-7	breast:	n/a	n/a
43	POLR2A	chr5:40755116-40756575	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr5:40755686-40756419	PFSK-1	brain:	n/a	n/a
45	HEY1	chr5:40755831-40756416	K562	blood:	n/a	n/a
46	NR2F2	chr5:40755652-40756483	K562	blood:	n/a	n/a
47	TBP	chr5:40755804-40756571	K562	blood:	n/a	n/a
48	POLR2A	chr5:40755734-40756471	GM12892	blood:	n/a	n/a
49	POLR2A	chr5:40755625-40756573	H1-hESC	embryonic stem cell:	n/a	n/a
50	GATA3	chr5:40755107-40756553	A549	lung:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40753118..40757884-chr5:40795999..40799979,7	MCF-7	breast:
2	chr5:40752902..40758440-chr5:40826185..40833524,16	K562	blood:
3	chr5:40756184..40758054-chr5:40828645..40830929,3	MCF-7	breast:
4	chr5:40756110..40758035-chr5:40758350..40760139,2	K562	blood:
5	chr5:40755665..40756472-chr5:40798471..40799111,2	K562	blood:
6	chr5:40752834..40759871-chr5:40793841..40803866,19	K562	blood:
7	chr5:40753631..40759305-chr5:40833742..40838306,12	K562	blood:
8	chr5:40755751..40756591-chr5:40835238..40835790,2	K562	blood:
9	chr5:40755529..40757354-chr5:40840291..40841871,2	K562	blood:
10	chr5:40755529..40757855-chr5:40840073..40841871,2	K562	blood:
11	chr5:40753823..40758906-chr5:40833676..40836936,8	MCF-7	breast:
12	chr5:40754814..40759259-chr5:40796869..40798614,4	MCF-7	breast:
13	chr5:40752681..40758776-chr5:40831589..40836413,12	MCF-7	breast:
14	chr5:40752902..40758869-chr5:40832024..40838409,16	K562	blood:
15	chr5:40755012..40759487-chr5:40796000..40799940,8	K562	blood:
16	chr5:40753845..40758533-chr5:40769118..40772000,4	K562	blood:
17	chr11:62608970..62609635-chr5:40755688..40756573,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TTC33	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000212296	Chromatin interaction
ENSG00000132356	Chromatin interaction
ENSG00000132357	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10064650	0.81[CEU][hapmap]
rs1070444	0.81[CEU][hapmap]
rs11743132	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11743196	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11745121	0.81[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748743	0.90[EUR][1000 genomes]
rs11749180	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749437	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186450	0.81[CEU][hapmap];0.83[AMR][1000 genomes]
rs12188129	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188981	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35999176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356509	1.00[ASN][1000 genomes]
rs62356512	1.00[ASN][1000 genomes]
rs62356519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357568	0.83[AMR][1000 genomes]
rs62357569	0.83[AMR][1000 genomes]
rs62357570	0.83[AMR][1000 genomes]
rs62357571	0.83[AMR][1000 genomes]
rs704034	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40754200-40756400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:40754200-40756600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:40754400-40756400	Active TSS	Ovary	ovary
4	chr5:40754400-40756600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:40754600-40756400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:40754600-40756400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:40754600-40756400	Active TSS	Fetal Kidney	kidney
8	chr5:40754600-40756400	Active TSS	Psoas Muscle	Psoas
9	chr5:40754600-40756400	Active TSS	GM12878-XiMat	blood
10	chr5:40754600-40756600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:40754600-40756600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:40754600-40756600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:40754600-40756600	Active TSS	Fetal Intestine Large	intestine
14	chr5:40754600-40756600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr5:40754800-40756400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr5:40754800-40756400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:40754800-40756400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:40754800-40756400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr5:40754800-40756400	Active TSS	Brain Cingulate Gyrus	brain
20	chr5:40754800-40756400	Active TSS	Fetal Lung	lung
21	chr5:40754800-40756400	Active TSS	HSMMtube	muscle
22	chr5:40754800-40756400	Active TSS	NHDF-Ad	bronchial
23	chr5:40754800-40756600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:40754800-40756600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr5:40754800-40756600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:40754800-40756600	Active TSS	Brain Hippocampus Middle	brain
27	chr5:40754800-40756600	Active TSS	NHEK	skin
28	chr5:40755000-40756400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr5:40755000-40756400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr5:40755000-40756400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:40755000-40756400	Active TSS	Brain Angular Gyrus	brain
32	chr5:40755000-40756400	Active TSS	Brain Anterior Caudate	brain
33	chr5:40755000-40756400	Active TSS	Brain Substantia Nigra	brain
34	chr5:40755000-40756400	Active TSS	Colon Smooth Muscle	Colon
35	chr5:40755000-40756400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr5:40755000-40756400	Active TSS	HUVEC	blood vessel
37	chr5:40755000-40756400	Active TSS	NHLF	lung
38	chr5:40755000-40756600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr5:40755000-40756600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:40755000-40756600	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr5:40755000-40756600	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr5:40755000-40756600	Active TSS	Muscle Satellite Cultured Cells	--
43	chr5:40755000-40756600	Active TSS	Fetal Brain Female	brain
44	chr5:40755000-40756600	Active TSS	HSMM	muscle
45	chr5:40755200-40756400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:40755200-40756400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr5:40755200-40756400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr5:40755200-40756400	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr5:40755200-40756400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:40755200-40756400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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