Variant report

Variant	rs543696266
Chromosome Location	chr11:65601419-65601420
allele	G/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	NRF1	chr11:65600912-65601424	GM12878	blood:	n/a	chr11:65601086-65601095 chr11:65601086-65601097 chr11:65601086-65601100 chr11:65601083-65601097
2	SIN3A	chr11:65600553-65601657	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr11:65601131-65601530	GM12878	blood:	n/a	n/a
4	MAX	chr11:65600708-65601737	SK-N-SH	brain:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
5	PBX3	chr11:65601126-65601466	GM12878	blood:	n/a	chr11:65601299-65601319
6	MAZ	chr11:65601234-65601470	K562	blood:	n/a	n/a
7	POLR2A	chr11:65600815-65601606	SK-N-SH	brain:	n/a	n/a
8	MXI1	chr11:65600950-65601625	GM12878	blood:	n/a	n/a
9	MAX	chr11:65600932-65601806	GM12878	blood:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
10	NFYA	chr11:65601101-65601547	K562	blood:	n/a	n/a
11	FOS	chr11:65601145-65601528	K562	blood:	n/a	n/a
12	E2F6	chr11:65600516-65601807	H1-hESC	embryonic stem cell:	n/a	chr11:65601066-65601081 chr11:65601068-65601076 chr11:65601065-65601076 chr11:65601087-65601096 chr11:65601069-65601076 chr11:65601068-65601077 chr11:65601065-65601076 chr11:65601065-65601076 chr11:65601066-65601077 chr11:65601067-65601077
13	SP1	chr11:65601224-65601440	K562	blood:	n/a	chr11:65601342-65601363
14	SP1	chr11:65600923-65601840	GM12878	blood:	n/a	chr11:65601342-65601363 chr11:65601112-65601126
15	USF1	chr11:65600934-65601510	SK-N-SH_RA	brain:	n/a	n/a
16	SP4	chr11:65601002-65601608	H1-hESC	embryonic stem cell:	n/a	chr11:65601380-65601396
17	EP300	chr11:65601367-65601545	GM12878	blood:	n/a	n/a
18	SP1	chr11:65600996-65601621	GM12878	blood:	n/a	chr11:65601342-65601363 chr11:65601112-65601126
19	MXI1	chr11:65600246-65602155	IMR90	lung:	n/a	n/a
20	MAZ	chr11:65600977-65601628	GM12878	blood:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
21	USF1	chr11:65600930-65601461	SK-N-SH_RA	brain:	n/a	n/a
22	CHD2	chr11:65601175-65601498	K562	blood:	n/a	n/a
23	ELF1	chr11:65600838-65601499	GM12878	blood:	n/a	n/a
24	GABPA	chr11:65601144-65601560	K562	blood:	n/a	n/a
25	CTCF	chr11:65601414-65601465	GM12892	blood:	n/a	n/a
26	PBX3	chr11:65601039-65601690	SK-N-SH	brain:	n/a	chr11:65601299-65601319
27	POLR2A	chr11:65601293-65601557	ProgFib	skin:	n/a	n/a
28	MAX	chr11:65601054-65601643	ECC-1	luminal epithelium:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
29	MAX	chr11:65600922-65601611	HUVEC	blood vessel:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
30	POLR2A	chr11:65600675-65601733	GM12892	blood:	n/a	n/a
31	IRF1	chr11:65601149-65601498	K562	blood:	n/a	chr11:65601313-65601322
32	SP2	chr11:65601120-65601463	K562	blood:	n/a	chr11:65601297-65601320
33	FOXM1	chr11:65601042-65601542	GM12878	blood:	n/a	n/a
34	RUNX3	chr11:65601033-65601855	GM12878	blood:	n/a	n/a
35	NFYB	chr11:65600808-65601769	K562	blood:	n/a	n/a
36	POLR2A	chr11:65601148-65601571	HUVEC	blood vessel:	n/a	n/a
37	MAX	chr11:65600609-65601721	H1-hESC	embryonic stem cell:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
38	POLR2A	chr11:65600483-65602602	HUVEC	blood vessel:	n/a	n/a
39	CHD2	chr11:65601072-65601534	H1-hESC	embryonic stem cell:	n/a	n/a
40	SP1	chr11:65601047-65601609	H1-hESC	embryonic stem cell:	n/a	chr11:65601342-65601363 chr11:65601112-65601126
41	NFYA	chr11:65601174-65601557	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:65600910-65601548	H1-hESC	embryonic stem cell:	n/a	n/a
43	RCOR1	chr11:65601257-65601662	GM12878	blood:	n/a	n/a
44	GTF2F1	chr11:65601019-65601569	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr11:65600932-65601615	H1-hESC	embryonic stem cell:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
46	BRCA1	chr11:65601245-65601486	GM12878	blood:	n/a	n/a
47	PBX3	chr11:65600803-65601696	SK-N-SH	brain:	n/a	chr11:65601299-65601319
48	SP1	chr11:65600910-65601657	H1-hESC	embryonic stem cell:	n/a	chr11:65601342-65601363 chr11:65601112-65601126
49	POLR2A	chr11:65600903-65601550	GM18951	blood:	n/a	n/a
50	ZNF143	chr11:65601291-65601441	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65601417-65601467	ProgFib	skin:	n/a
2	chr11:65601385-65601435	PrEC	prostate:	n/a
3	chr11:65601417-65601467	NT2-D1	testis:	n/a
4	chr11:65601385-65601435	HCPEpiC	choroid plexus:	n/a
5	chr11:65601417-65601467	BE2_C	brain:	n/a
6	chr11:65601417-65601467	MCF-7	breast:	n/a
7	chr11:65601385-65601435	GM12892	blood:	n/a
8	chr11:65601385-65601435	CMK	blood:	n/a
9	chr11:65601417-65601467	ECC-1	luminal epithelium:	n/a
10	chr11:65601417-65601467	GM19239	blood:	n/a
11	chr11:65601417-65601467	ovcar-3	ovarian:	n/a
12	chr11:65601417-65601467	GM12891	blood:	n/a
13	chr11:65601385-65601435	MCF-7	breast:	n/a
14	chr11:65601385-65601435	HRPEpiC	eye:	n/a
15	chr11:65601417-65601467	K562	blood:	n/a
16	chr11:65601417-65601467	HCF	heart:	n/a
17	chr11:65601385-65601435	NHBE	bronchial:	n/a
18	chr11:65601385-65601435	SK-N-SH_RA	brain:	n/a
19	chr11:65601385-65601435	RPTEC	kidney:	n/a
20	chr11:65601385-65601435	GM12891	blood:	n/a
21	chr11:65601385-65601435	HIPEpiC	eye:	n/a
22	chr11:65601417-65601467	SAEC	small airway:	n/a
23	chr11:65601385-65601435	ovcar-3	ovarian:	n/a
24	chr11:65601417-65601467	HUVEC	blood vessel:	n/a
25	chr11:65601385-65601435	HCM	heart:	n/a
26	chr11:65601417-65601467	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:65601385-65601435	BE2_C	brain:	n/a
28	chr11:65601417-65601467	AoSMC	blood vessel:	n/a
29	chr11:65601385-65601435	NHDF-neo	bronchial:	n/a
30	chr11:65601417-65601467	Hela-S3	cervix:	n/a
31	chr11:65601385-65601435	H1-hESC	embryonic stem cell:	embryo
32	chr11:65601385-65601435	HCT-116	colon:	n/a
33	chr11:65601385-65601435	HEK293	kidney:	embryo
34	chr11:65601385-65601435	Jurkat	blood:	n/a
35	chr11:65601385-65601435	HCF	heart:	n/a
36	chr11:65601385-65601435	GM06990	blood:	n/a
37	chr11:65601417-65601467	U87	brain:	n/a
38	chr11:65601385-65601435	HEEpiC	esophagus:	n/a
39	chr11:65601417-65601467	GM12892	blood:	n/a
40	chr11:65601417-65601467	AG09319	gingival:	n/a
41	chr11:65601417-65601467	HNPCEpiC	eye:	n/a
42	chr11:65601385-65601435	Caco-2	colon:	n/a
43	chr11:65601417-65601467	HEEpiC	esophagus:	n/a
44	chr11:65601417-65601467	HCPEpiC	choroid plexus:	n/a
45	chr11:65601417-65601467	PrEC	prostate:	n/a
46	chr11:65601417-65601467	HMEC	breast:	n/a
47	chr11:65601385-65601435	HNPCEpiC	eye:	n/a
48	chr11:65601417-65601467	AG09309	skin:	n/a
49	chr11:65601417-65601467	Hepatocyte	liver:	n/a
50	chr11:65601417-65601467	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65601147..65603673-chr11:65623876..65625928,3	MCF-7	breast:
2	chr11:65599027..65600852-chr11:65601394..65604291,2	K562	blood:
3	chr11:65599682..65601863-chr11:65818746..65820444,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUS81-1	chr11:65601414-65601554	NONHSAT022227

Variant related genes	Relation type
SNX32	TF binding region
CFL1	TF binding region
CFL1	CpG island
SNX32	CpG island
ENSG00000087365	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	esv3328198	chr11:65600476-65603674	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3364341	chr11:65600476-65603674	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65600200-65601600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:65600200-65601600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:65600200-65601800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr11:65600200-65602600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:65600400-65601600	Active TSS	Brain Cingulate Gyrus	brain
6	chr11:65600400-65601600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:65600400-65601600	Active TSS	Brain Substantia Nigra	brain
8	chr11:65600400-65601600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:65600400-65601600	Active TSS	Fetal Kidney	kidney
10	chr11:65600400-65601600	Active TSS	Fetal Lung	lung
11	chr11:65600400-65601800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:65600400-65601800	Active TSS	Brain Hippocampus Middle	brain
13	chr11:65600400-65601800	Flanking Active TSS	Right Ventricle	heart
14	chr11:65600400-65602000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:65600400-65602200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr11:65600400-65602200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:65600400-65602400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr11:65600400-65602400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr11:65600600-65601600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:65600600-65601600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:65600600-65601600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:65600600-65601600	Active TSS	Aorta	Aorta
23	chr11:65600600-65601600	Active TSS	Brain Anterior Caudate	brain
24	chr11:65600600-65601600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr11:65600600-65601600	Active TSS	Fetal Brain Male	brain
26	chr11:65600600-65601600	Bivalent/Poised TSS	NHEK	skin
27	chr11:65600600-65601800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:65600600-65601800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr11:65600600-65601800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:65600600-65601800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:65600600-65601800	Active TSS	Fetal Brain Female	brain
32	chr11:65600600-65601800	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:65600600-65601800	Active TSS	Psoas Muscle	Psoas
34	chr11:65600600-65602000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:65600600-65602000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr11:65600600-65602200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:65600600-65602200	Flanking Active TSS	Colonic Mucosa	Colon
38	chr11:65600600-65602600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:65600800-65601600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:65600800-65601600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr11:65600800-65601600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr11:65600800-65601600	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr11:65600800-65601600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:65600800-65601600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:65600800-65601600	Active TSS	Primary T cells from cord blood	blood
46	chr11:65600800-65601600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:65600800-65601600	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr11:65600800-65601600	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr11:65600800-65601600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:65600800-65601600	Active TSS	Liver	Liver

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