Variant report

Variant	rs2742522
Chromosome Location	chr11:8928542-8928543
allele	A/G
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	REST	chr11:8928303-8928614	A549	lung:	n/a	n/a
2	REST	chr11:8927985-8928722	A549	lung:	n/a	n/a
3	EP300	chr11:8928109-8928683	SK-N-SH_RA	brain:	n/a	chr11:8928322-8928330 chr11:8928317-8928331 chr11:8928351-8928360 chr11:8928555-8928564
4	SIN3AK20	chr11:8928271-8928627	A549	lung:	n/a	n/a
5	TCF12	chr11:8927956-8928852	ECC-1	luminal epithelium:	n/a	n/a
6	PBX3	chr11:8928005-8928738	SK-N-SH	brain:	n/a	n/a
7	TCF7L2	chr11:8927951-8928577	Hela-S3	cervix:	n/a	chr11:8928124-8928133 chr11:8928121-8928137 chr11:8928125-8928135 chr11:8928121-8928137 chr11:8928122-8928136 chr11:8928122-8928136 chr11:8928125-8928134
8	POLR2A	chr11:8928084-8928680	SK-N-SH	brain:	n/a	n/a
9	MAX	chr11:8928128-8928697	A549	lung:	n/a	chr11:8928351-8928360 chr11:8928320-8928329
10	GATA3	chr11:8928092-8928605	MCF-7	breast:	n/a	chr11:8928352-8928361
11	FOSL2	chr11:8928099-8928630	A549	lung:	n/a	chr11:8928350-8928360 chr11:8928351-8928359 chr11:8928351-8928358 chr11:8928557-8928566 chr11:8928244-8928253 chr11:8928352-8928363 chr11:8928351-8928359 chr11:8928350-8928360 chr11:8928350-8928360
12	PBX3	chr11:8927946-8928873	SK-N-SH	brain:	n/a	n/a
13	JUN	chr11:8928046-8928861	Hela-S3	cervix:	n/a	chr11:8928350-8928360 chr11:8928317-8928330 chr11:8928351-8928359 chr11:8928351-8928358 chr11:8928557-8928566 chr11:8928244-8928253 chr11:8928352-8928363 chr11:8928351-8928359 chr11:8928350-8928360 chr11:8928350-8928360
14	STAT3	chr11:8928050-8928624	MCF10A-Er-Src	breast:	n/a	chr11:8928225-8928239 chr11:8928226-8928237 chr11:8928557-8928565
15	FOS	chr11:8928154-8928630	MCF10A-Er-Src	breast:	n/a	chr11:8928350-8928360 chr11:8928351-8928359 chr11:8928351-8928358 chr11:8928557-8928566 chr11:8928244-8928253 chr11:8928352-8928363 chr11:8928351-8928359 chr11:8928350-8928360 chr11:8928350-8928360
16	TCF7L2	chr11:8927728-8928702	Hela-S3	cervix:	n/a	chr11:8928125-8928135 chr11:8928121-8928137 chr11:8928125-8928134 chr11:8928122-8928136 chr11:8928122-8928136 chr11:8928124-8928133 chr11:8928121-8928137
17	CEBPB	chr11:8928088-8928730	HCT-116	colon:	n/a	chr11:8928635-8928646 chr11:8928212-8928225
18	NFIC	chr11:8928101-8928830	ECC-1	luminal epithelium:	n/a	n/a
19	JUN	chr11:8928165-8928574	HUVEC	blood vessel:	n/a	chr11:8928350-8928360 chr11:8928317-8928330 chr11:8928351-8928359 chr11:8928351-8928358 chr11:8928557-8928566 chr11:8928244-8928253 chr11:8928352-8928363 chr11:8928351-8928359 chr11:8928350-8928360 chr11:8928350-8928360
20	ELK4	chr11:8928410-8928797	Hela-S3	cervix:	n/a	n/a
21	TCF12	chr11:8927869-8928892	A549	lung:	n/a	n/a
22	FOS	chr11:8928134-8928619	MCF10A-Er-Src	breast:	n/a	chr11:8928350-8928360 chr11:8928351-8928359 chr11:8928351-8928358 chr11:8928557-8928566 chr11:8928244-8928253 chr11:8928352-8928363 chr11:8928351-8928359 chr11:8928350-8928360 chr11:8928350-8928360
23	FOSL2	chr11:8927982-8928724	A549	lung:	n/a	chr11:8928350-8928360 chr11:8928351-8928359 chr11:8928351-8928358 chr11:8928557-8928566 chr11:8928244-8928253 chr11:8928352-8928363 chr11:8928351-8928359 chr11:8928350-8928360 chr11:8928350-8928360
24	SIN3AK20	chr11:8928238-8928649	SK-N-SH	brain:	n/a	n/a
25	ATF3	chr11:8928117-8928721	A549	lung:	n/a	chr11:8928318-8928331
26	RXRA	chr11:8928033-8928739	SK-N-SH	brain:	n/a	n/a
27	TCF12	chr11:8928150-8928692	A549	lung:	n/a	n/a
28	CREB1	chr11:8928136-8928549	ECC-1	luminal epithelium:	n/a	n/a
29	JUND	chr11:8928086-8928869	Hela-S3	cervix:	n/a	chr11:8928349-8928360 chr11:8928350-8928360 chr11:8928351-8928359 chr11:8928351-8928358 chr11:8928557-8928566 chr11:8928244-8928253 chr11:8928352-8928363 chr11:8928351-8928359 chr11:8928350-8928360 chr11:8928350-8928360
30	ATF3	chr11:8928152-8928596	A549	lung:	n/a	chr11:8928318-8928331
31	MYC	chr11:8928131-8928628	MCF10A-Er-Src	breast:	n/a	chr11:8928351-8928360 chr11:8928320-8928329
32	STAT3	chr11:8928054-8928801	Hela-S3	cervix:	n/a	chr11:8928225-8928239 chr11:8928226-8928237 chr11:8928557-8928565
33	FOSL2	chr11:8928038-8928756	SK-N-SH	brain:	n/a	chr11:8928350-8928360 chr11:8928351-8928359 chr11:8928351-8928358 chr11:8928557-8928566 chr11:8928244-8928253 chr11:8928352-8928363 chr11:8928351-8928359 chr11:8928350-8928360 chr11:8928350-8928360
34	GATA3	chr11:8926904-8928900	SK-N-SH	brain:	n/a	chr11:8928352-8928361 chr11:8928734-8928745
35	MAX	chr11:8928093-8928617	ECC-1	luminal epithelium:	n/a	chr11:8928351-8928360 chr11:8928320-8928329
36	PBX3	chr11:8928143-8928755	A549	lung:	n/a	n/a
37	GABPA	chr11:8928172-8928658	A549	lung:	n/a	n/a
38	MAX	chr11:8928216-8928625	SK-N-SH	brain:	n/a	chr11:8928351-8928360 chr11:8928320-8928329
39	SP1	chr11:8928018-8928790	A549	lung:	n/a	n/a
40	TEAD4	chr11:8928154-8928592	A549	lung:	n/a	n/a
41	POLR2A	chr11:8928353-8928545	Hela-S3	cervix:	n/a	n/a
42	JUND	chr11:8928010-8928774	SK-N-SH	brain:	n/a	chr11:8928349-8928360 chr11:8928350-8928360 chr11:8928351-8928359 chr11:8928351-8928358 chr11:8928557-8928566 chr11:8928244-8928253 chr11:8928352-8928363 chr11:8928351-8928359 chr11:8928350-8928360 chr11:8928350-8928360
43	EP300	chr11:8928077-8928693	ECC-1	luminal epithelium:	n/a	chr11:8928322-8928330 chr11:8928317-8928331 chr11:8928351-8928360 chr11:8928555-8928564
44	RCOR1	chr11:8928118-8928808	Hela-S3	cervix:	n/a	n/a
45	STAT3	chr11:8928023-8929139	MCF10A-Er-Src	breast:	n/a	chr11:8928225-8928239 chr11:8929109-8929120 chr11:8928226-8928237 chr11:8928557-8928565
46	EP300	chr11:8928061-8928857	SK-N-SH	brain:	n/a	chr11:8928322-8928330 chr11:8928061-8928075 chr11:8928317-8928331 chr11:8928351-8928360 chr11:8928555-8928564
47	ZBTB33	chr11:8928183-8928637	A549	lung:	n/a	n/a
48	POLR2A	chr11:8928166-8928720	HUVEC	blood vessel:	n/a	n/a
49	JUND	chr11:8928224-8928595	A549	lung:	n/a	chr11:8928349-8928360 chr11:8928350-8928360 chr11:8928351-8928359 chr11:8928351-8928358 chr11:8928557-8928566 chr11:8928244-8928253 chr11:8928352-8928363 chr11:8928351-8928359 chr11:8928350-8928360 chr11:8928350-8928360
50	MAX	chr11:8928128-8928729	A549	lung:	n/a	chr11:8928351-8928360 chr11:8928320-8928329

No.	Distal block	Cell Line	Cell type
1	chr11:8922103..8924731-chr11:8927642..8930308,2	K562	blood:
2	chr11:8709093..8712035-chr11:8927581..8930062,2	MCF-7	breast:
3	chr11:8925893..8928872-chr11:8930220..8933061,3	MCF-7	breast:

Variant related genes	Relation type
AKIP1	TF binding region
ENSG00000166444	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000166452	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10743099	0.88[JPT][hapmap]
rs11042113	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs1432117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1432118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16906231	1.00[CEU][hapmap]
rs2116513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2163627	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2436176	0.86[ASN][1000 genomes]
rs2568022	0.82[ASN][1000 genomes]
rs2568040	0.91[ASN][1000 genomes]
rs2568067	0.91[ASN][1000 genomes]
rs2568073	0.93[ASN][1000 genomes]
rs2568076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2568084	0.84[ASN][1000 genomes]
rs2653572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2653599	0.98[ASN][1000 genomes]
rs2653617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2742481	0.82[ASN][1000 genomes]
rs2742490	0.81[ASN][1000 genomes]
rs2742492	0.88[ASN][1000 genomes]
rs2742506	0.93[ASN][1000 genomes]
rs2742509	0.93[ASN][1000 genomes]
rs2742536	0.92[YRI][hapmap]
rs2742537	0.92[YRI][hapmap]
rs4910179	0.91[ASN][1000 genomes]
rs56947653	0.98[ASN][1000 genomes]
rs7108116	0.88[JPT][hapmap]
rs7125458	0.86[JPT][hapmap]
rs7949740	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8926000-8929400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:8926600-8929000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:8926600-8929000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr11:8926600-8929000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:8926600-8929000	Enhancers	HMEC	breast
6	chr11:8926600-8930000	Enhancers	NHEK	skin
7	chr11:8926800-8929400	Enhancers	NHLF	lung
8	chr11:8927000-8928800	Enhancers	HSMMtube	muscle
9	chr11:8927000-8929000	Enhancers	Osteobl	bone
10	chr11:8927200-8928800	Enhancers	HSMM	muscle
11	chr11:8927200-8929000	Enhancers	NHDF-Ad	bronchial
12	chr11:8927200-8931000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:8927400-8929000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:8927600-8929000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr11:8927800-8928600	Enhancers	Hela-S3	cervix
16	chr11:8928000-8929000	Enhancers	HUVEC	blood vessel
17	chr11:8928200-8928600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:8928200-8928600	Weak transcription	Placenta	Placenta
19	chr11:8928400-8928600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:8928400-8928600	Flanking Active TSS	NH-A	brain
21	chr11:8928400-8928800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:8928400-8928800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:8928400-8928800	Flanking Active TSS	A549	lung
24	chr11:8928400-8929400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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