Variant report

Variant	rs116362174
Chromosome Location	chr11:120081228-120081229
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	MAX	chr11:120081024-120081933	ECC-1	luminal epithelium:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
2	TCF7L2	chr11:120081125-120082190	HCT-116	colon:	n/a	n/a
3	CTCF	chr11:120081200-120081350	Caco-2	colon:	n/a	n/a
4	POLR2A	chr11:120080368-120083375	IMR90	lung:	n/a	n/a
5	MAX	chr11:120081050-120082363	HCT-116	colon:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
6	MAX	chr11:120081198-120082373	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
7	MAZ	chr11:120080646-120082607	IMR90	lung:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
8	USF1	chr11:120081124-120081391	K562	blood:	n/a	n/a
9	JUND	chr11:120081156-120081292	K562	blood:	n/a	n/a
10	SIN3A	chr11:120081170-120082654	H1-hESC	embryonic stem cell:	n/a	chr11:120081870-120081881 chr11:120081407-120081418 chr11:120081509-120081520
11	UBTF	chr11:120081140-120082333	K562	blood:	n/a	n/a
12	CREB1	chr11:120081047-120082445	HepG2	liver:	n/a	n/a
13	MXI1	chr11:120080275-120082746	IMR90	lung:	n/a	chr11:120081821-120081830
14	MYC	chr11:120081145-120081853	MCF10A-Er-Src	breast:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
15	MAZ	chr11:120081062-120082344	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
16	MAX	chr11:120081180-120082360	A549	lung:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
17	MXI1	chr11:120081225-120081828	Hela-S3	cervix:	n/a	n/a
18	MYC	chr11:120080812-120082264	MCF10A-Er-Src	breast:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
19	ZNF384	chr11:120080788-120081893	K562	blood:	n/a	n/a
20	MAX	chr11:120080993-120082433	ECC-1	luminal epithelium:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
21	MAX	chr11:120080973-120082559	HCT-116	colon:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
22	TCF3	chr11:120081118-120081240	GM12878	blood:	n/a	n/a
23	MYC	chr11:120081121-120082123	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
24	MAZ	chr11:120081177-120082326	Hela-S3	cervix:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
25	RCOR1	chr11:120081102-120081237	Hela-S3	cervix:	n/a	n/a
26	MAX	chr11:120081113-120082552	HepG2	liver:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
27	MAX	chr11:120081066-120081952	SK-N-SH	brain:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
28	POLR2A	chr11:120081168-120082002	MCF10A-Er-Src	breast:	n/a	n/a
29	HMGN3	chr11:120081182-120082290	K562	blood:	n/a	n/a
30	MXI1	chr11:120081132-120082214	GM12878	blood:	n/a	chr11:120081821-120081830
31	POLR2A	chr11:120081109-120082081	HepG2	liver:	n/a	n/a
32	ZNF143	chr11:120081159-120081263	K562	blood:	n/a	n/a
33	MYC	chr11:120081063-120082449	A549	lung:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
34	MAX	chr11:120080645-120082378	Hela-S3	cervix:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
35	MYC	chr11:120081049-120082705	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
36	MYC	chr11:120081115-120082233	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
37	ZNF384	chr11:120081130-120081792	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:120081067-120082267	HepG2	liver:	n/a	n/a
39	MAX	chr11:120080447-120082622	NB4	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
40	MXI1	chr11:120080653-120082910	SK-N-SH	brain:	n/a	chr11:120081821-120081830
41	USF1	chr11:120081217-120081422	SK-N-SH_RA	brain:	n/a	n/a
42	MAX	chr11:120081127-120081452	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081411-120081421
43	MAX	chr11:120081081-120082486	HepG2	liver:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
44	TBL1XR1	chr11:120081136-120081896	K562	blood:	n/a	n/a
45	MAX	chr11:120080988-120082573	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
46	MAX	chr11:120081063-120082381	A549	lung:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
47	MAX	chr11:120081118-120082366	SK-N-SH	brain:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
48	CTCF	chr11:120081220-120081370	HEEpiC	esophagus:	n/a	n/a
49	MAZ	chr11:120081181-120082084	GM12878	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
50	MAX	chr11:120081207-120081255	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
2	chr11:120080662..120083182-chr11:120083944..120086303,3	MCF-7	breast:
3	chr11:120054593..120056417-chr11:120079805..120082698,2	K562	blood:
4	chr11:120081219..120081853-chr16:30366400..30367038,2	Hela-S3	cervix:
5	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:

Variant related genes	Relation type
OAF	TF binding region
ENSG00000137699	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000184232	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3322007	chr11:120079642-120084040	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3325819	chr11:120080267-120083115	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr11:120080400-120081400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:120080400-120081400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:120080400-120081400	Enhancers	Fetal Heart	heart
4	chr11:120080600-120081400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr11:120080600-120081400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
6	chr11:120080600-120081400	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr11:120080600-120081400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr11:120080600-120081400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
9	chr11:120080600-120081400	Flanking Bivalent TSS/Enh	Dnd41	blood
10	chr11:120080600-120081400	Flanking Active TSS	Hela-S3	cervix
11	chr11:120080600-120081800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr11:120080800-120081400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:120080800-120081400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
14	chr11:120080800-120081400	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr11:120080800-120081400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr11:120080800-120081400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
17	chr11:120080800-120081400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:120080800-120081400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:120080800-120081400	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr11:120080800-120081400	Flanking Active TSS	Placenta	Placenta
21	chr11:120080800-120081400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
22	chr11:120080800-120081400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
23	chr11:120080800-120081400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:120080800-120081400	Flanking Active TSS	NH-A	brain
25	chr11:120080800-120082400	Active TSS	Aorta	Aorta
26	chr11:120080800-120083400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr11:120080800-120084000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:120081000-120081400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:120081000-120081400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr11:120081000-120081400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
31	chr11:120081000-120081400	Flanking Active TSS	HUVEC	blood vessel
32	chr11:120081000-120081800	Active TSS	Thymus	Thymus
33	chr11:120081000-120082000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:120081000-120082000	Active TSS	Primary T cells from cord blood	blood
35	chr11:120081000-120082200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:120081000-120082400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr11:120081000-120082400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr11:120081000-120082400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr11:120081000-120082400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:120081000-120082400	Active TSS	Spleen	Spleen
41	chr11:120081000-120082400	Active TSS	A549	lung
42	chr11:120081000-120083400	Active TSS	Gastric	stomach
43	chr11:120081000-120083400	Active TSS	NHLF	lung
44	chr11:120081000-120083600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr11:120081000-120083600	Active TSS	Esophagus	oesophagus
46	chr11:120081000-120083600	Active TSS	Ovary	ovary
47	chr11:120081000-120083600	Active TSS	Small Intestine	intestine
48	chr11:120081000-120084000	Active TSS	Fetal Kidney	kidney
49	chr11:120081000-120084200	Active TSS	Right Ventricle	heart
50	chr11:120081000-120084400	Active TSS	Rectal Smooth Muscle	rectum

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