Variant report

Variant	rs73491310
Chromosome Location	chr11:58912815-58912816
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	MXI1	chr11:58911027-58913404	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:58911418-58912899	GM12878	blood:	n/a	n/a
3	RCOR1	chr11:58911957-58912932	K562	blood:	n/a	n/a
4	MAX	chr11:58911719-58912886	A549	lung:	n/a	chr11:58911800-58911809
5	MAX	chr11:58911729-58912890	HCT-116	colon:	n/a	chr11:58911800-58911809
6	MAX	chr11:58911846-58912860	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:58909722-58913181	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:58911622-58913239	Hela-S3	cervix:	n/a	n/a
9	ZNF143	chr11:58912135-58912870	H1-hESC	embryonic stem cell:	n/a	chr11:58912565-58912583 chr11:58912378-58912396 chr11:58912442-58912460
10	MAX	chr11:58911945-58912845	H1-hESC	embryonic stem cell:	n/a	n/a
11	GTF2F1	chr11:58912004-58912869	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF2	chr11:58912759-58912911	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:58911373-58912958	GM12878	blood:	n/a	n/a
14	RFX5	chr11:58911663-58913329	Hela-S3	cervix:	n/a	n/a
15	TCF12	chr11:58911718-58912859	A549	lung:	n/a	chr11:58912258-58912268 chr11:58912340-58912348
16	MAX	chr11:58911801-58912824	A549	lung:	n/a	n/a
17	UBTF	chr11:58912131-58912832	K562	blood:	n/a	n/a
18	MTA3	chr11:58911525-58912817	GM12878	blood:	n/a	n/a
19	SIN3AK20	chr11:58912080-58912929	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:58911892-58912962	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:58911588-58913077	GM18505	blood:	n/a	n/a
22	TEAD4	chr11:58912608-58912925	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:58911621-58912816	GM18951	blood:	n/a	n/a
24	E2F6	chr11:58911906-58912847	H1-hESC	embryonic stem cell:	n/a	chr11:58912270-58912277 chr11:58912269-58912281 chr11:58912563-58912572 chr11:58912270-58912277 chr11:58912268-58912279 chr11:58912314-58912325 chr11:58912229-58912243 chr11:58912270-58912277 chr11:58912265-58912280 chr11:58912242-58912251 chr11:58912269-58912278
25	MXI1	chr11:58911982-58912929	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:58911513-58913127	GM19099	blood:	n/a	n/a
27	POLR2A	chr11:58911669-58912932	K562	blood:	n/a	n/a
28	SIN3A	chr11:58911729-58913071	H1-hESC	embryonic stem cell:	n/a	chr11:58912274-58912285
29	E2F6	chr11:58911541-58912923	H1-hESC	embryonic stem cell:	n/a	chr11:58912270-58912277 chr11:58912269-58912281 chr11:58912563-58912572 chr11:58912270-58912277 chr11:58912268-58912279 chr11:58912314-58912325 chr11:58912229-58912243 chr11:58912270-58912277 chr11:58912265-58912280 chr11:58912242-58912251 chr11:58912269-58912278
30	GATA3	chr11:58911784-58912849	A549	lung:	n/a	n/a
31	MAX	chr11:58911896-58913345	Hela-S3	cervix:	n/a	n/a
32	CHD1	chr11:58911716-58912959	GM12878	blood:	n/a	chr11:58912562-58912572
33	SIN3AK20	chr11:58911752-58912891	HCT-116	colon:	n/a	n/a
34	MYC	chr11:58911950-58912942	K562	blood:	n/a	n/a
35	POLR2A	chr11:58912712-58912871	H1-hESC	embryonic stem cell:	n/a	n/a
36	SIN3AK20	chr11:58911962-58913015	PANC-1	pancreas:	n/a	n/a
37	IKZF1	chr11:58912761-58912960	GM12878	blood:	n/a	n/a
38	CHD2	chr11:58911970-58913181	Hela-S3	cervix:	n/a	chr11:58912562-58912572
39	E2F6	chr11:58911640-58912975	K562	blood:	n/a	chr11:58912270-58912277 chr11:58912269-58912281 chr11:58912563-58912572 chr11:58912270-58912277 chr11:58912268-58912279 chr11:58912314-58912325 chr11:58912229-58912243 chr11:58912270-58912277 chr11:58912265-58912280 chr11:58912242-58912251 chr11:58912269-58912278
40	PML	chr11:58911541-58913094	GM12878	blood:	n/a	n/a
41	MYC	chr11:58912066-58912846	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:58911949-58912856	HL-60	blood:	n/a	n/a
43	CEBPB	chr11:58911676-58913460	Hela-S3	cervix:	n/a	chr11:58913245-58913256 chr11:58913217-58913228 chr11:58913216-58913229
44	POLR2A	chr11:58911465-58912923	GM12892	blood:	n/a	n/a
45	E2F4	chr11:58911605-58913393	MCF10A-Er-Src	breast:	n/a	chr11:58912270-58912277 chr11:58912269-58912281 chr11:58912563-58912572 chr11:58912270-58912277 chr11:58912229-58912243 chr11:58912270-58912277 chr11:58912268-58912279 chr11:58912265-58912280 chr11:58912242-58912251 chr11:58912269-58912278
46	MAX	chr11:58911762-58912906	A549	lung:	n/a	chr11:58911800-58911809
47	POLR2A	chr11:58911626-58913194	Hela-S3	cervix:	n/a	n/a
48	MAX	chr11:58911721-58912944	H1-hESC	embryonic stem cell:	n/a	chr11:58911800-58911809
49	CEBPB	chr11:58912690-58912833	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:58911768-58912848	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:58911158..58913877-chr11:58937423..58939058,2	K562	blood:
2	chr11:58408491..58410275-chr11:58912566..58915086,2	K562	blood:
3	chr11:58904183..58908174-chr11:58910132..58913359,4	MCF-7	breast:

Variant related genes	Relation type
FAM111A	TF binding region
ENSG00000245571	TF binding region
ENSG00000255381	TF binding region
ENSG00000110042	Chromatin interaction
ENSG00000245571	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2096585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2844343	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519287	1.00[AMR][1000 genomes]
rs56963795	1.00[AMR][1000 genomes]
rs58024146	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58355571	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58599185	1.00[AMR][1000 genomes]
rs60845282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61149043	1.00[AMR][1000 genomes]
rs61178453	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474706	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476939	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73483100	1.00[AMR][1000 genomes]
rs73485212	1.00[AMR][1000 genomes]
rs73485235	1.00[AMR][1000 genomes]
rs73487315	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487322	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487327	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487334	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489468	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489478	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489480	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489486	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489493	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489497	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491319	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491327	0.96[AFR][1000 genomes];1.00[AMR][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	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58908800-58913600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:58909400-58913200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:58909400-58913400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:58909400-58913400	Active TSS	NHDF-Ad	bronchial
5	chr11:58909400-58914000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:58910600-58913000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr11:58910600-58913000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:58910600-58913200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr11:58910600-58913400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr11:58910600-58913400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:58910600-58913400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:58910600-58913400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:58910800-58913000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr11:58910800-58913400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:58910800-58913600	Flanking Active TSS	HUVEC	blood vessel
16	chr11:58910800-58914200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:58911000-58913600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:58911200-58913800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr11:58911400-58913000	Flanking Active TSS	Fetal Stomach	stomach
20	chr11:58911400-58914000	Enhancers	HepG2	liver
21	chr11:58911600-58913000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr11:58911600-58913000	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr11:58911600-58913000	Flanking Active TSS	NHLF	lung
24	chr11:58911600-58913200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr11:58911600-58913200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr11:58911800-58913000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr11:58911800-58913000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr11:58911800-58913000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:58911800-58913000	Flanking Active TSS	Fetal Heart	heart
30	chr11:58911800-58913000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:58911800-58913200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr11:58911800-58913400	Active TSS	NH-A	brain
33	chr11:58912000-58913000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:58912000-58913000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr11:58912000-58913000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr11:58912000-58913000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:58912000-58913200	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr11:58912000-58913400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:58912000-58913400	Active TSS	Fetal Kidney	kidney
40	chr11:58912200-58913000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr11:58912200-58913000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:58912200-58913000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:58912200-58913000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:58912200-58913000	Flanking Active TSS	Colonic Mucosa	Colon
45	chr11:58912200-58913000	Enhancers	Fetal Brain Male	brain
46	chr11:58912200-58913000	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr11:58912200-58913200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:58912200-58913200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:58912200-58913400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:58912400-58913000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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