Variant report

Variant	rs1044522
Chromosome Location	chr11:66335832-66335833
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	MAX	chr11:66335793-66336436	A549	lung:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
2	MAX	chr11:66335658-66336436	A549	lung:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
3	POLR2A	chr11:66335776-66336358	K562	blood:	n/a	n/a
4	E2F6	chr11:66335693-66336500	K562	blood:	n/a	chr11:66336090-66336100 chr11:66336093-66336102 chr11:66336146-66336157
5	MAX	chr11:66335821-66336475	SK-N-SH	brain:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
6	POLR2A	chr11:66335808-66336046	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:66335804-66336212	MCF-7	breast:	n/a	n/a
8	CCNT2	chr11:66335721-66336260	K562	blood:	n/a	n/a
9	SIN3AK20	chr11:66335815-66336289	PANC-1	pancreas:	n/a	n/a
10	ZBTB7A	chr11:66335652-66336185	K562	blood:	n/a	n/a
11	ZBTB7A	chr11:66335685-66336254	ECC-1	luminal epithelium:	n/a	n/a
12	NRF1	chr11:66335777-66336357	SK-N-SH	brain:	n/a	chr11:66336094-66336103 chr11:66336092-66336103 chr11:66336089-66336103 chr11:66336092-66336103
13	HMGN3	chr11:66335471-66336214	K562	blood:	n/a	n/a
14	MAX	chr11:66335733-66336452	ECC-1	luminal epithelium:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
15	MAX	chr11:66335726-66336494	K562	blood:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
16	MAX	chr11:66335820-66336438	MCF-7	breast:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
17	MXI1	chr11:66335373-66336534	SK-N-SH	brain:	n/a	n/a
18	CREB1	chr11:66335783-66336196	A549	lung:	n/a	n/a
19	FOXA2	chr11:66335720-66336493	A549	lung:	n/a	n/a
20	E2F6	chr11:66335756-66336335	K562	blood:	n/a	chr11:66336090-66336100 chr11:66336093-66336102 chr11:66336146-66336157
21	TCF12	chr11:66335814-66336521	A549	lung:	n/a	n/a
22	POLR2A	chr11:66335810-66336213	A549	lung:	n/a	n/a
23	MAZ	chr11:66335399-66336387	IMR90	lung:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
24	E2F6	chr11:66335824-66336443	A549	lung:	n/a	chr11:66336090-66336100 chr11:66336093-66336102 chr11:66336146-66336157
25	EGR1	chr11:66335674-66336080	K562	blood:	n/a	n/a
26	EGR1	chr11:66335718-66336030	K562	blood:	n/a	n/a
27	E2F6	chr11:66335641-66336453	A549	lung:	n/a	chr11:66336090-66336100 chr11:66336093-66336102 chr11:66336146-66336157
28	POLR2A	chr11:66335830-66336297	Hela-S3	cervix:	n/a	n/a
29	EGR1	chr11:66335796-66335941	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:66335727-66336214	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr11:66335807-66336204	ECC-1	luminal epithelium:	n/a	n/a
32	YY1	chr11:66335719-66336321	K562	blood:	n/a	chr11:66336023-66336037
33	FOXA2	chr11:66335774-66336460	A549	lung:	n/a	n/a
34	TAF1	chr11:66335821-66336211	ECC-1	luminal epithelium:	n/a	n/a
35	MXI1	chr11:66335828-66336483	IMR90	lung:	n/a	n/a
36	E2F6	chr11:66335710-66336403	K562	blood:	n/a	chr11:66336090-66336100 chr11:66336093-66336102 chr11:66336146-66336157
37	ZBTB7A	chr11:66335483-66336119	ECC-1	luminal epithelium:	n/a	n/a
38	TCF12	chr11:66335775-66336391	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr11:66335821-66336123	ECC-1	luminal epithelium:	n/a	n/a
40	MAX	chr11:66335829-66336460	SK-N-SH	brain:	n/a	chr11:66336123-66336132 chr11:66336121-66336130 chr11:66336122-66336129
41	YY1	chr11:66335822-66336028	K562	blood:	n/a	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	chr11:66333502..66335839-chr11:66382927..66384488,2	K562	blood:
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
ENSG00000248643	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000173914	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10896126	0.82[ASN][1000 genomes]
rs1791679	0.91[ASN][1000 genomes]
rs1945302	0.92[ASN][1000 genomes]
rs2242663	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4277117	0.81[ASN][1000 genomes]
rs4930383	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4930384	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs607736	0.92[ASN][1000 genomes]
rs610293	0.88[ASN][1000 genomes]
rs7951189	0.82[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1044522	CTSF	cis	Esophagus Muscularis	GTEx

Chromatin state (count:113 , 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	chr11:66330800-66336000	Weak transcription	Fetal Lung	lung
6	chr11:66331200-66336600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:66331400-66337800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:66331600-66337800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:66332000-66336600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:66334600-66336000	Enhancers	Fetal Brain Male	brain
11	chr11:66334800-66336400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:66335000-66336200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:66335000-66336200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:66335000-66336600	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr11:66335200-66336000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:66335200-66336000	Enhancers	Fetal Heart	heart
17	chr11:66335200-66336000	Flanking Active TSS	Spleen	Spleen
18	chr11:66335200-66336200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:66335200-66336200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:66335200-66336200	Active TSS	Colon Smooth Muscle	Colon
21	chr11:66335200-66336400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr11:66335200-66336400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:66335200-66336400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:66335200-66336600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
25	chr11:66335400-66336000	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:66335400-66336000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:66335400-66336000	Enhancers	Primary B cells from cord blood	blood
28	chr11:66335400-66336000	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr11:66335400-66336000	Bivalent Enhancer	Fetal Thymus	thymus
30	chr11:66335400-66336000	Flanking Active TSS	Pancreas	Pancrea
31	chr11:66335400-66336000	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr11:66335400-66336200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:66335400-66336200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr11:66335400-66336200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:66335400-66336200	Active TSS	Brain Cingulate Gyrus	brain
36	chr11:66335400-66336200	Active TSS	Brain Hippocampus Middle	brain
37	chr11:66335400-66336200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr11:66335400-66336200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:66335400-66336200	Flanking Active TSS	Colonic Mucosa	Colon
40	chr11:66335400-66336200	Active TSS	A549	lung
41	chr11:66335400-66336200	Active TSS	HSMM	muscle
42	chr11:66335400-66336200	Active TSS	HSMMtube	muscle
43	chr11:66335400-66336200	Active TSS	Osteobl	bone
44	chr11:66335400-66336400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr11:66335400-66336400	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr11:66335400-66336400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:66335400-66336400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:66335400-66336400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:66335400-66336400	Flanking Active TSS	Liver	Liver
50	chr11:66335400-66336400	Flanking Active TSS	Fetal Muscle Trunk	muscle

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