Variant report

Variant	rs376655523
Chromosome Location	chr11:120081403-120081404
allele	-/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	chr11:120081024-120081933	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	POLR2A	chr11:120080368-120083375	IMR90	lung:	n/a	n/a
4	POLR2A	chr11:120081299-120082425	NB4	blood:	n/a	n/a
5	CTCF	chr11:120081400-120081550	AG09319	gingival:	n/a	chr11:120081439-120081448
6	ELF1	chr11:120081400-120082181	GM12878	blood:	n/a	n/a
7	MAX	chr11:120081050-120082363	HCT-116	colon:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
8	MAX	chr11:120081198-120082373	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
9	MAZ	chr11:120080646-120082607	IMR90	lung:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
10	EP300	chr11:120081379-120081901	HepG2	liver:	n/a	chr11:120081505-120081521 chr11:120081878-120081894
11	POLR2A	chr11:120081247-120082691	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:120081403-120082192	K562	blood:	n/a	n/a
13	ZBTB7A	chr11:120081350-120082179	K562	blood:	n/a	chr11:120081834-120081843
14	SIN3A	chr11:120081170-120082654	H1-hESC	embryonic stem cell:	n/a	chr11:120081870-120081881 chr11:120081407-120081418 chr11:120081509-120081520
15	UBTF	chr11:120081140-120082333	K562	blood:	n/a	n/a
16	CREB1	chr11:120081047-120082445	HepG2	liver:	n/a	n/a
17	MXI1	chr11:120080275-120082746	IMR90	lung:	n/a	chr11:120081821-120081830
18	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
19	CTCF	chr11:120081400-120081550	HPF	lung:	n/a	chr11:120081439-120081448
20	MAZ	chr11:120081062-120082344	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
21	HDAC2	chr11:120081397-120082093	HepG2	liver:	n/a	n/a
22	GTF2F1	chr11:120081298-120081678	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr11:120081400-120081550	AG09309	skin:	n/a	chr11:120081439-120081448
24	MAX	chr11:120081180-120082360	A549	lung:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
25	MXI1	chr11:120081225-120081828	Hela-S3	cervix:	n/a	n/a
26	MAX	chr11:120081392-120082256	MCF-7	breast:	n/a	chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
27	POLR2A	chr11:120081307-120082320	K562	blood:	n/a	n/a
28	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
29	MYC	chr11:120081387-120082123	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
30	ZNF384	chr11:120080788-120081893	K562	blood:	n/a	n/a
31	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
32	MAX	chr11:120080973-120082559	HCT-116	colon:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
33	E2F6	chr11:120081281-120082415	K562	blood:	n/a	chr11:120081571-120081583 chr11:120081574-120081583 chr11:120081872-120081881
34	YY1	chr11:120081393-120082175	HepG2	liver:	n/a	chr11:120081853-120081862 chr11:120081574-120081583
35	MYC	chr11:120081121-120082123	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
36	CTCF	chr11:120081400-120081550	HVMF	connective:	n/a	chr11:120081439-120081448
37	SP1	chr11:120081401-120081770	A549	lung:	n/a	chr11:120081566-120081580 chr11:120081573-120081582 chr11:120081574-120081583 chr11:120081573-120081582 chr11:120081573-120081587 chr11:120081572-120081584 chr11:120081572-120081584
38	CTCF	chr11:120081400-120081550	HUVEC	blood vessel:	n/a	chr11:120081439-120081448
39	MAZ	chr11:120081177-120082326	Hela-S3	cervix:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
40	BHLHE40	chr11:120081336-120081979	GM12878	blood:	n/a	chr11:120081879-120081895
41	RCOR1	chr11:120081398-120082347	K562	blood:	n/a	n/a
42	MAX	chr11:120081113-120082552	HepG2	liver:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
43	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
44	CTCF	chr11:120081320-120081470	BJ	skin:	n/a	chr11:120081439-120081448
45	POLR2A	chr11:120081168-120082002	MCF10A-Er-Src	breast:	n/a	n/a
46	CTCF	chr11:120081342-120082026	IMR90	lung:	n/a	chr11:120081834-120081850 chr11:120081576-120081589 chr11:120081835-120081848 chr11:120081439-120081448
47	HMGN3	chr11:120081182-120082290	K562	blood:	n/a	n/a
48	MXI1	chr11:120081132-120082214	GM12878	blood:	n/a	chr11:120081821-120081830
49	POLR2A	chr11:120081109-120082081	HepG2	liver:	n/a	n/a
50	CBX3	chr11:120081370-120081822	K562	blood:	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
ENSG00000184232	Chromatin interaction
ENSG00000137699	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000260219	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120080600-120081800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr11:120080800-120082400	Active TSS	Aorta	Aorta
3	chr11:120080800-120083400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr11:120080800-120084000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:120081000-120081800	Active TSS	Thymus	Thymus
6	chr11:120081000-120082000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:120081000-120082000	Active TSS	Primary T cells from cord blood	blood
8	chr11:120081000-120082200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:120081000-120082400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:120081000-120082400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:120081000-120082400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr11:120081000-120082400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:120081000-120082400	Active TSS	Spleen	Spleen
14	chr11:120081000-120082400	Active TSS	A549	lung
15	chr11:120081000-120083400	Active TSS	Gastric	stomach
16	chr11:120081000-120083400	Active TSS	NHLF	lung
17	chr11:120081000-120083600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:120081000-120083600	Active TSS	Esophagus	oesophagus
19	chr11:120081000-120083600	Active TSS	Ovary	ovary
20	chr11:120081000-120083600	Active TSS	Small Intestine	intestine
21	chr11:120081000-120084000	Active TSS	Fetal Kidney	kidney
22	chr11:120081000-120084200	Active TSS	Right Ventricle	heart
23	chr11:120081000-120084400	Active TSS	Rectal Smooth Muscle	rectum
24	chr11:120081200-120081800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:120081200-120082000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:120081200-120082000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:120081200-120082000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:120081200-120082000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:120081200-120082000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:120081200-120082000	Active TSS	Lung	lung
31	chr11:120081200-120082000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr11:120081200-120082000	Active TSS	Stomach Smooth Muscle	stomach
33	chr11:120081200-120082200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr11:120081200-120082200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:120081200-120082200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr11:120081200-120082200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:120081200-120082200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:120081200-120082200	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr11:120081200-120082200	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr11:120081200-120082200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:120081200-120082200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:120081200-120082200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr11:120081200-120082200	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr11:120081200-120082200	Active TSS	Muscle Satellite Cultured Cells	--
45	chr11:120081200-120082200	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr11:120081200-120082200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:120081200-120082200	Active TSS	Adipose Nuclei	Adipose
48	chr11:120081200-120082200	Active TSS	Colonic Mucosa	Colon
49	chr11:120081200-120082200	Active TSS	Fetal Brain Female	brain
50	chr11:120081200-120082200	Active TSS	Skeletal Muscle Female	skeletal muscle

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