Variant report

Variant	rs59057733
Chromosome Location	chr11:66336244-66336245
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	MYC	chr11:66335848-66336474	A549	lung:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
2	USF2	chr11:66335967-66336280	GM12878	blood:	n/a	chr11:66336191-66336202
3	USF1	chr11:66335884-66336363	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr11:66335793-66336436	A549	lung:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
5	SIX5	chr11:66335867-66336457	A549	lung:	n/a	n/a
6	MAX	chr11:66335938-66336343	MCF-7	breast:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
7	USF1	chr11:66335971-66336401	K562	blood:	n/a	n/a
8	BCL3	chr11:66335947-66336425	A549	lung:	n/a	chr11:66336015-66336028
9	MAX	chr11:66335917-66336349	H1-hESC	embryonic stem cell:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
10	TCF12	chr11:66335926-66336343	A549	lung:	n/a	n/a
11	SIN3AK20	chr11:66336003-66336311	K562	blood:	n/a	n/a
12	MAX	chr11:66335658-66336436	A549	lung:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
13	FOS	chr11:66336114-66336429	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:66335776-66336358	K562	blood:	n/a	n/a
15	E2F6	chr11:66335693-66336500	K562	blood:	n/a	chr11:66336090-66336100 chr11:66336093-66336102 chr11:66336146-66336157
16	USF2	chr11:66336017-66336333	K562	blood:	n/a	chr11:66336191-66336202
17	USF1	chr11:66335883-66336398	A549	lung:	n/a	n/a
18	MYC	chr11:66335978-66336455	MCF10A-Er-Src	breast:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
19	MXI1	chr11:66335979-66336275	K562	blood:	n/a	n/a
20	MAX	chr11:66335821-66336475	SK-N-SH	brain:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
21	TBP	chr11:66336037-66336259	K562	blood:	n/a	n/a
22	USF1	chr11:66335924-66336328	A549	lung:	n/a	n/a
23	SIN3AK20	chr11:66336000-66336328	A549	lung:	n/a	n/a
24	CCNT2	chr11:66335721-66336260	K562	blood:	n/a	n/a
25	ZBTB33	chr11:66336037-66336303	A549	lung:	n/a	n/a
26	SIN3AK20	chr11:66335815-66336289	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr11:66335946-66336369	PANC-1	pancreas:	n/a	n/a
28	ZBTB7A	chr11:66335685-66336254	ECC-1	luminal epithelium:	n/a	n/a
29	MYC	chr11:66335938-66336373	K562	blood:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
30	USF1	chr11:66335877-66336429	A549	lung:	n/a	n/a
31	NRF1	chr11:66335777-66336357	SK-N-SH	brain:	n/a	chr11:66336094-66336103 chr11:66336092-66336103 chr11:66336089-66336103 chr11:66336092-66336103
32	TBL1XR1	chr11:66336073-66336325	K562	blood:	n/a	n/a
33	MAX	chr11:66335733-66336452	ECC-1	luminal epithelium:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
34	USF2	chr11:66336051-66336344	Hela-S3	cervix:	n/a	chr11:66336191-66336202
35	MAX	chr11:66335726-66336494	K562	blood:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
36	MAX	chr11:66335820-66336438	MCF-7	breast:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
37	POLR2A	chr11:66335839-66336433	SK-N-MC	brain:	n/a	n/a
38	BHLHE40	chr11:66336004-66336301	A549	lung:	n/a	n/a
39	FOS	chr11:66336070-66336313	MCF10A-Er-Src	breast:	n/a	n/a
40	MAX	chr11:66335932-66336370	A549	lung:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
41	MAX	chr11:66335968-66336296	GM12878	blood:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
42	MXI1	chr11:66335373-66336534	SK-N-SH	brain:	n/a	n/a
43	HA-E2F1	chr11:66335986-66336344	MCF-7	breast:	n/a	chr11:66336090-66336100 chr11:66336093-66336102
44	USF1	chr11:66335904-66336333	SK-N-SH_RA	brain:	n/a	n/a
45	FOXA2	chr11:66335720-66336493	A549	lung:	n/a	n/a
46	E2F6	chr11:66335756-66336335	K562	blood:	n/a	chr11:66336090-66336100 chr11:66336093-66336102 chr11:66336146-66336157
47	E2F6	chr11:66335934-66336329	Hela-S3	cervix:	n/a	chr11:66336090-66336100 chr11:66336093-66336102 chr11:66336146-66336157
48	RCOR1	chr11:66336053-66336280	K562	blood:	n/a	n/a
49	TCF12	chr11:66335814-66336521	A549	lung:	n/a	n/a
50	MAZ	chr11:66335399-66336387	IMR90	lung:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66336197-66336247	HCM	heart:	n/a
2	chr11:66336244-66336294	AG09319	gingival:	n/a
3	chr11:66336197-66336247	AG09319	gingival:	n/a
4	chr11:66336197-66336247	NT2-D1	testis:	n/a
5	chr11:66336244-66336294	SK-N-MC	brain:	n/a
6	chr11:66336197-66336247	GM06990	blood:	n/a
7	chr11:66336244-66336294	MCF10A-Er-Src	breast:	n/a
8	chr11:66336197-66336247	Caco-2	colon:	n/a
9	chr11:66336197-66336247	NB4	blood:	n/a
10	chr11:66336197-66336247	AG04450	lung:	fetal
11	chr11:66336197-66336247	NHDF-neo	bronchial:	n/a
12	chr11:66336197-66336247	PFSK-1	brain:	n/a
13	chr11:66336197-66336247	ovcar-3	ovarian:	n/a
14	chr11:66336197-66336247	GM12892	blood:	n/a
15	chr11:66336197-66336247	U87	brain:	n/a
16	chr11:66336244-66336294	K562	blood:	n/a
17	chr11:66336244-66336294	AG09309	skin:	n/a
18	chr11:66336244-66336294	HRPEpiC	eye:	n/a
19	chr11:66336244-66336294	ECC-1	luminal epithelium:	n/a
20	chr11:66336244-66336294	HIPEpiC	eye:	n/a
21	chr11:66336244-66336294	PANC-1	pancreas:	n/a
22	chr11:66336244-66336294	AG04450	lung:	fetal
23	chr11:66336244-66336294	GM12878	blood:	n/a
24	chr11:66336197-66336247	ECC-1	luminal epithelium:	n/a
25	chr11:66336244-66336294	AG10803	skin:	n/a
26	chr11:66336244-66336294	GM06990	blood:	n/a
27	chr11:66336197-66336247	SK-N-SH_RA	brain:	n/a
28	chr11:66336197-66336247	IMR90	lung:	fetal
29	chr11:66336197-66336247	NHBE	bronchial:	n/a
30	chr11:66336197-66336247	PANC-1	pancreas:	n/a
31	chr11:66336244-66336294	AG04449	skin:	fetal
32	chr11:66336244-66336294	HEEpiC	esophagus:	n/a
33	chr11:66336244-66336294	LNCaP	prostate:	n/a
34	chr11:66336197-66336247	GM12878	blood:	n/a
35	chr11:66336197-66336247	Hela-S3	cervix:	n/a
36	chr11:66336197-66336247	HIPEpiC	eye:	n/a
37	chr11:66336197-66336247	ProgFib	skin:	n/a
38	chr11:66336244-66336294	SKMC	muscle:	n/a
39	chr11:66336244-66336294	U87	brain:	n/a
40	chr11:66336197-66336247	HMEC	breast:	n/a
41	chr11:66336244-66336294	NB4	blood:	n/a
42	chr11:66336244-66336294	PrEC	prostate:	n/a
43	chr11:66336244-66336294	BE2_C	brain:	n/a
44	chr11:66336244-66336294	IMR90	lung:	fetal
45	chr11:66336244-66336294	NH-A	brain:	n/a
46	chr11:66336244-66336294	HNPCEpiC	eye:	n/a
47	chr11:66336244-66336294	GM19239	blood:	n/a
48	chr11:66336197-66336247	HNPCEpiC	eye:	n/a
49	chr11:66336197-66336247	SK-N-MC	brain:	n/a
50	chr11:66336197-66336247	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66333517..66336306-chr11:66404884..66407774,3	K562	blood:
2	chr11:66333502..66336819-chr11:66382812..66384536,3	K562	blood:
3	chr11:66334662..66337726-chr11:66444588..66447609,3	K562	blood:
4	chr11:66311475..66316022-chr11:66335981..66338223,4	MCF-7	breast:
5	chr11:66333513..66337489-chr11:66382854..66385992,4	MCF-7	breast:
6	chr11:66333833..66336382-chr11:66443152..66446114,2	MCF-7	breast:

Variant related genes	Relation type
CTSF	TF binding region
CTSF	CpG island
ENSG00000174165	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000173933	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11227491	1.00[AMR][1000 genomes]
rs11538048	1.00[AMR][1000 genomes]
rs17849480	1.00[AMR][1000 genomes]
rs17850564	1.00[AMR][1000 genomes]
rs478807	0.83[AFR][1000 genomes]
rs527550	0.83[AFR][1000 genomes]
rs55955243	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55962689	1.00[AMR][1000 genomes]
rs56146874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56177555	1.00[AMR][1000 genomes]
rs56194916	1.00[AMR][1000 genomes]
rs56244360	1.00[AMR][1000 genomes]
rs56291132	1.00[AMR][1000 genomes]
rs56380786	1.00[AMR][1000 genomes]
rs56790408	1.00[AMR][1000 genomes]
rs57113976	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57412357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58447882	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58527779	1.00[AMR][1000 genomes]
rs58883837	1.00[AMR][1000 genomes]
rs59213528	1.00[AMR][1000 genomes]
rs59792175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61675228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs648491	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897788	chr11:66319262-66347850	Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3376183	chr11:66334601-66337149	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66319000-66337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66329400-66336600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:66330400-66337800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:66330600-66336800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:66331200-66336600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:66331400-66337800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:66331600-66337800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:66332000-66336600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:66334800-66336400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:66335000-66336600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr11:66335200-66336400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr11:66335200-66336400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:66335200-66336400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:66335200-66336600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
15	chr11:66335400-66336400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr11:66335400-66336400	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr11:66335400-66336400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:66335400-66336400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:66335400-66336400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:66335400-66336400	Flanking Active TSS	Liver	Liver
21	chr11:66335400-66336400	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr11:66335400-66336400	Active TSS	Hela-S3	cervix
23	chr11:66335400-66336400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr11:66335400-66336400	Flanking Active TSS	NH-A	brain
25	chr11:66335600-66336400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:66335600-66336400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:66335600-66336400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr11:66335600-66336400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:66335600-66336400	Active TSS	Gastric	stomach
30	chr11:66335600-66336400	Active TSS	Right Atrium	heart
31	chr11:66335600-66336400	Flanking Active TSS	HMEC	breast
32	chr11:66335600-66337000	Active TSS	Rectal Smooth Muscle	rectum
33	chr11:66335800-66336400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:66335800-66336400	Active TSS	Psoas Muscle	Psoas
35	chr11:66335800-66336400	Active TSS	GM12878-XiMat	blood
36	chr11:66335800-66336600	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr11:66336000-66336400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:66336000-66336400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:66336000-66336400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:66336000-66336400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr11:66336000-66336400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr11:66336000-66336400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr11:66336000-66336400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:66336000-66336400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:66336000-66336400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr11:66336000-66336400	Flanking Active TSS	Fetal Brain Male	brain
47	chr11:66336000-66336400	Flanking Active TSS	Fetal Heart	heart
48	chr11:66336000-66336400	Active TSS	Fetal Kidney	kidney
49	chr11:66336000-66336400	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr11:66336000-66336400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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