Variant report

Variant	rs2742520
Chromosome Location	chr11:8932533-8932534
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	SIN3AK20	chr11:8932495-8933025	PFSK-1	brain:	n/a	n/a
2	HEY1	chr11:8932517-8932968	K562	blood:	n/a	chr11:8932689-8932704 chr11:8932686-8932701 chr11:8932843-8932858
3	POLR2A	chr11:8932518-8932915	K562	blood:	n/a	n/a
4	NRF1	chr11:8932416-8932950	GM12878	blood:	n/a	chr11:8932745-8932754 chr11:8932743-8932752 chr11:8932743-8932757 chr11:8932685-8932699 chr11:8932743-8932754 chr11:8932742-8932753 chr11:8932687-8932698 chr11:8932740-8932754
5	POLR2A	chr11:8932409-8933364	K562	blood:	n/a	n/a
6	POLR2A	chr11:8932518-8933340	GM18526	blood:	n/a	n/a
7	ELF1	chr11:8932514-8932972	MCF-7	breast:	n/a	chr11:8932696-8932705
8	PAX5	chr11:8932512-8933308	GM12892	blood:	n/a	chr11:8932689-8932698 chr11:8932819-8932828
9	MAX	chr11:8932432-8932739	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:8932378-8933358	ECC-1	luminal epithelium:	n/a	n/a
11	MYC	chr11:8932280-8933361	K562	blood:	n/a	chr11:8932402-8932411
12	POLR2A	chr11:8932499-8933221	GM12892	blood:	n/a	n/a
13	MAX	chr11:8932504-8933496	ECC-1	luminal epithelium:	n/a	n/a
14	NR2F2	chr11:8932530-8932934	K562	blood:	n/a	n/a
15	MYC	chr11:8932421-8933284	NB4	blood:	n/a	n/a
16	POLR2A	chr11:8932446-8933296	K562	blood:	n/a	n/a
17	POLR2A	chr11:8932421-8933297	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:8932404-8933377	NB4	blood:	n/a	n/a
19	MAX	chr11:8932513-8932919	MCF-7	breast:	n/a	n/a
20	JUND	chr11:8932513-8933305	A549	lung:	n/a	n/a
21	E2F6	chr11:8932528-8932881	H1-hESC	embryonic stem cell:	n/a	chr11:8932691-8932701 chr11:8932744-8932753 chr11:8932689-8932698
22	MAX	chr11:8932531-8933295	GM12878	blood:	n/a	n/a
23	ETS1	chr11:8932480-8932921	K562	blood:	n/a	n/a
24	MAX	chr11:8932355-8933433	HepG2	liver:	n/a	chr11:8932402-8932411
25	POLR2A	chr11:8932488-8933431	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr11:8932421-8933338	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr11:8932514-8933308	Hela-S3	cervix:	n/a	n/a
28	TCF12	chr11:8932509-8933193	ECC-1	luminal epithelium:	n/a	chr11:8932683-8932693
29	E2F6	chr11:8932501-8932815	K562	blood:	n/a	chr11:8932691-8932701 chr11:8932744-8932753 chr11:8932689-8932698
30	POLR2A	chr11:8932482-8933354	GM19099	blood:	n/a	n/a
31	HEY1	chr11:8932474-8933022	HepG2	liver:	n/a	chr11:8932689-8932704 chr11:8932686-8932701 chr11:8932843-8932858
32	ELF1	chr11:8932508-8933354	GM12878	blood:	n/a	chr11:8932696-8932705 chr11:8933228-8933240
33	POLR2A	chr11:8932487-8933289	GM12878	blood:	n/a	n/a
34	ZBTB7A	chr11:8932277-8933452	ECC-1	luminal epithelium:	n/a	chr11:8932814-8932821
35	MAX	chr11:8932472-8933456	K562	blood:	n/a	n/a
36	POLR2A	chr11:8932519-8933145	A549	lung:	n/a	n/a
37	ZBTB7A	chr11:8932479-8933361	K562	blood:	n/a	chr11:8932814-8932821
38	POLR2A	chr11:8932520-8933201	Hela-S3	cervix:	n/a	n/a
39	MYC	chr11:8932426-8933337	K562	blood:	n/a	n/a
40	ZBTB7A	chr11:8932502-8932646	HepG2	liver:	n/a	n/a
41	CREB1	chr11:8932494-8933154	A549	lung:	n/a	n/a
42	POLR2A	chr11:8932518-8933216	U87	brain:	n/a	n/a
43	TAF1	chr11:8932476-8933418	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr11:8932510-8932973	U87	brain:	n/a	n/a
45	E2F6	chr11:8932529-8932771	K562	blood:	n/a	chr11:8932691-8932701 chr11:8932744-8932753 chr11:8932689-8932698
46	POLR2A	chr11:8932509-8933499	H1-hESC	embryonic stem cell:	n/a	n/a
47	E2F4	chr11:8932499-8932866	MCF10A-Er-Src	breast:	n/a	chr11:8932691-8932701 chr11:8932641-8932652 chr11:8932744-8932753 chr11:8932659-8932670 chr11:8932689-8932698
48	E2F6	chr11:8932400-8932954	A549	lung:	n/a	chr11:8932691-8932701 chr11:8932744-8932753 chr11:8932689-8932698
49	POLR2A	chr11:8932419-8933297	GM15510	blood:	n/a	n/a
50	POLR2A	chr11:8932514-8932948	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8932529-8932579	Hepatocyte	liver:	n/a
2	chr11:8932505-8932555	HRCEpiC	kidney:	n/a
3	chr11:8932512-8932562	GM12878	blood:	n/a
4	chr11:8932505-8932555	A549	lung:	n/a
5	chr11:8932505-8932555	MCF10A-Er-Src	breast:	n/a
6	chr11:8932505-8932555	AG09309	skin:	n/a
7	chr11:8932512-8932562	AG09309	skin:	n/a
8	chr11:8932505-8932555	NHBE	bronchial:	n/a
9	chr11:8932505-8932555	IMR90	lung:	fetal
10	chr11:8932512-8932562	Jurkat	blood:	n/a
11	chr11:8932512-8932562	HMEC	breast:	n/a
12	chr11:8932519-8932569	BJ	skin:	n/a
13	chr11:8932519-8932569	AG10803	skin:	n/a
14	chr11:8932512-8932562	BE2_C	brain:	n/a
15	chr11:8932505-8932555	ECC-1	luminal epithelium:	n/a
16	chr11:8932519-8932569	SK-N-MC	brain:	n/a
17	chr11:8932512-8932562	NHBE	bronchial:	n/a
18	chr11:8932505-8932555	HPAEpiC	pulmonary alveolar:	n/a
19	chr11:8932529-8932579	HEK293	kidney:	embryo
20	chr11:8932512-8932562	AG10803	skin:	n/a
21	chr11:8932519-8932569	SK-N-SH	brain:	n/a
22	chr11:8932505-8932555	Hepatocyte	liver:	n/a
23	chr11:8932519-8932569	NH-A	brain:	n/a
24	chr11:8932512-8932562	HIPEpiC	eye:	n/a
25	chr11:8932529-8932579	PANC-1	pancreas:	n/a
26	chr11:8932519-8932569	SKMC	muscle:	n/a
27	chr11:8932519-8932569	SAEC	small airway:	n/a
28	chr11:8932529-8932579	ECC-1	luminal epithelium:	n/a
29	chr11:8932512-8932562	PFSK-1	brain:	n/a
30	chr11:8932529-8932579	NB4	blood:	n/a
31	chr11:8932529-8932579	K562	blood:	n/a
32	chr11:8932529-8932579	HCT-116	colon:	n/a
33	chr11:8932529-8932579	HPAEpiC	pulmonary alveolar:	n/a
34	chr11:8932529-8932579	GM12878	blood:	n/a
35	chr11:8932519-8932569	AG04449	skin:	fetal
36	chr11:8932505-8932555	GM19239	blood:	n/a
37	chr11:8932512-8932562	Hela-S3	cervix:	n/a
38	chr11:8932529-8932579	HRPEpiC	eye:	n/a
39	chr11:8932505-8932555	SK-N-SH_RA	brain:	n/a
40	chr11:8932529-8932579	NT2-D1	testis:	n/a
41	chr11:8932512-8932562	HCF	heart:	n/a
42	chr11:8932529-8932579	SK-N-SH_RA	brain:	n/a
43	chr11:8932519-8932569	HCF	heart:	n/a
44	chr11:8932529-8932579	HL-60	blood:	n/a
45	chr11:8932519-8932569	CMK	blood:	n/a
46	chr11:8932512-8932562	PrEC	prostate:	n/a
47	chr11:8932519-8932569	Jurkat	blood:	n/a
48	chr11:8932529-8932579	IMR90	lung:	fetal
49	chr11:8932505-8932555	AG10803	skin:	n/a
50	chr11:8932529-8932579	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8702711..8705833-chr11:8931238..8933056,3	K562	blood:
2	chr11:8709340..8711728-chr11:8931222..8932960,2	MCF-7	breast:
3	chr11:8930312..8933119-chr11:9023959..9026944,2	K562	blood:
4	chr11:8930312..8934560-chr11:9023959..9026944,3	K562	blood:
5	chr11:8702257..8705886-chr11:8931185..8934379,5	MCF-7	breast:
6	chr11:8891163..8893518-chr11:8931818..8934397,2	MCF-7	breast:
7	chr11:8931659..8933906-chr11:8984325..8986430,2	K562	blood:

Variant related genes	Relation type
ST5	TF binding region
AKIP1	TF binding region
AKIP1	CpG island
ST5	CpG island
ENSG00000253973	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000200983	Chromatin interaction
ENSG00000175348	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000175352	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12798311	0.83[EUR][1000 genomes]
rs2016844	0.83[EUR][1000 genomes]
rs2056903	0.83[EUR][1000 genomes]
rs2246878	0.83[EUR][1000 genomes]
rs2247038	0.83[EUR][1000 genomes]
rs2568034	0.83[EUR][1000 genomes]
rs2568042	0.82[EUR][1000 genomes]
rs2568074	0.83[EUR][1000 genomes]
rs2568075	0.83[EUR][1000 genomes]
rs2568077	0.83[EUR][1000 genomes]
rs2568079	0.80[EUR][1000 genomes]
rs2653556	0.91[EUR][1000 genomes]
rs2653560	0.85[EUR][1000 genomes]
rs2653562	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2653565	0.82[EUR][1000 genomes]
rs2653601	0.83[EUR][1000 genomes]
rs2653611	0.80[EUR][1000 genomes]
rs2742497	0.80[EUR][1000 genomes]
rs2742504	0.80[EUR][1000 genomes]
rs2742505	0.80[EUR][1000 genomes]
rs2742512	0.83[EUR][1000 genomes]
rs2742513	0.83[EUR][1000 genomes]
rs2742521	0.83[EUR][1000 genomes]
rs7106539	0.90[EUR][1000 genomes]
rs909464	0.83[EUR][1000 genomes]
rs982273	0.91[EUR][1000 genomes]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8931200-8933800	Active TSS	Brain Anterior Caudate	brain
2	chr11:8931400-8933800	Active TSS	Brain Angular Gyrus	brain
3	chr11:8931400-8933800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr11:8931400-8933800	Active TSS	Fetal Lung	lung
5	chr11:8931400-8934000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:8931400-8934000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:8931400-8934000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:8931400-8934000	Active TSS	Rectal Smooth Muscle	rectum
9	chr11:8931400-8934200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:8931600-8933400	Active TSS	Lung	lung
11	chr11:8931600-8933600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:8931600-8933600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:8931600-8933800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:8931600-8933800	Active TSS	Brain Germinal Matrix	brain
15	chr11:8931600-8933800	Active TSS	Esophagus	oesophagus
16	chr11:8931600-8934000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:8931600-8934000	Active TSS	Colonic Mucosa	Colon
18	chr11:8931600-8934000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:8931600-8934000	Active TSS	Ovary	ovary
20	chr11:8931600-8934000	Active TSS	Right Atrium	heart
21	chr11:8931600-8934400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:8931600-8935200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:8931800-8932600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:8931800-8932600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr11:8931800-8933000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:8931800-8933600	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:8931800-8933800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:8931800-8933800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:8931800-8933800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:8931800-8933800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:8931800-8933800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:8931800-8933800	Active TSS	Primary T cells from cord blood	blood
33	chr11:8931800-8933800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr11:8931800-8933800	Active TSS	Aorta	Aorta
35	chr11:8931800-8933800	Active TSS	Brain Hippocampus Middle	brain
36	chr11:8931800-8933800	Active TSS	Colon Smooth Muscle	Colon
37	chr11:8931800-8933800	Active TSS	Fetal Heart	heart
38	chr11:8931800-8933800	Active TSS	Placenta Amnion	Placenta Amnion
39	chr11:8931800-8933800	Active TSS	A549	lung
40	chr11:8931800-8933800	Active TSS	HepG2	liver
41	chr11:8931800-8934000	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr11:8931800-8934000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:8931800-8934000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:8931800-8934000	Active TSS	HSMM	muscle
45	chr11:8931800-8934000	Active TSS	HSMMtube	muscle
46	chr11:8931800-8934200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:8931800-8934200	Active TSS	Fetal Brain Female	brain
48	chr11:8931800-8934200	Active TSS	Fetal Kidney	kidney
49	chr11:8931800-8934200	Active TSS	Thymus	Thymus
50	chr11:8931800-8934400	Active TSS	Brain Substantia Nigra	brain

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