Variant report

Variant	rs563967344
Chromosome Location	chr11:65641357-65641358
allele	A/C
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	NR3C1	chr11:65640946-65641365	A549	lung:	n/a	n/a
2	JUND	chr11:65641100-65641376	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:65640853-65641493	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:65640694-65641378	Gliobla	brain:	n/a	n/a
5	POLR2A	chr11:65640843-65641487	GM15510	blood:	n/a	n/a
6	POLR2A	chr11:65640584-65641659	PFSK-1	brain:	n/a	n/a
7	SP1	chr11:65640870-65641381	GM12878	blood:	n/a	chr11:65641106-65641117 chr11:65641094-65641104 chr11:65641117-65641129 chr11:65641169-65641179 chr11:65641118-65641127 chr11:65641118-65641128 chr11:65641094-65641104 chr11:65641168-65641179 chr11:65641119-65641128 chr11:65641117-65641128 chr11:65641117-65641129 chr11:65640980-65640994 chr11:65641170-65641179
8	MAX	chr11:65640683-65641461	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr11:65640788-65641439	HepG2	liver:	n/a	n/a
10	MAX	chr11:65640909-65641452	GM12878	blood:	n/a	n/a
11	E2F6	chr11:65640973-65641435	H1-hESC	embryonic stem cell:	n/a	chr11:65641183-65641190 chr11:65641183-65641190 chr11:65641179-65641191 chr11:65641183-65641190 chr11:65641173-65641183 chr11:65641180-65641191
12	USF1	chr11:65641003-65641515	H1-hESC	embryonic stem cell:	n/a	chr11:65641271-65641282
13	SP4	chr11:65640717-65641504	H1-hESC	embryonic stem cell:	n/a	chr11:65641106-65641117 chr11:65641137-65641153 chr11:65641168-65641179 chr11:65641089-65641105 chr11:65641117-65641128 chr11:65641166-65641182 chr11:65641091-65641107 chr11:65641115-65641131
14	POLR2A	chr11:65640831-65641447	NB4	blood:	n/a	n/a
15	POLR2A	chr11:65640926-65641378	A549	lung:	n/a	n/a
16	POLR2A	chr11:65640733-65641430	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:65640325-65641585	U87	brain:	n/a	n/a
18	MAX	chr11:65641085-65641437	A549	lung:	n/a	n/a
19	CTBP2	chr11:65640955-65641390	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUN	chr11:65640385-65641486	K562	blood:	n/a	n/a
21	PAX5	chr11:65640886-65641417	GM12892	blood:	n/a	n/a
22	USF1	chr11:65641151-65641408	HepG2	liver:	n/a	chr11:65641271-65641282
23	POLR2A	chr11:65640911-65641378	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:65640749-65641517	GM12891	blood:	n/a	n/a
25	TCF12	chr11:65641097-65641515	GM12878	blood:	n/a	n/a
26	MAX	chr11:65640754-65641506	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr11:65640886-65641475	SK-N-SH	brain:	n/a	n/a
28	USF1	chr11:65641061-65641435	A549	lung:	n/a	chr11:65641271-65641282
29	STAT3	chr11:65640838-65641377	MCF10A-Er-Src	breast:	n/a	chr11:65641227-65641239
30	FOXP2	chr11:65640888-65641430	PFSK-1	brain:	n/a	n/a
31	SP1	chr11:65640777-65641429	K562	blood:	n/a	chr11:65641106-65641117 chr11:65641094-65641104 chr11:65641117-65641129 chr11:65641169-65641179 chr11:65641118-65641127 chr11:65641118-65641128 chr11:65641094-65641104 chr11:65641168-65641179 chr11:65640833-65640847 chr11:65641119-65641128 chr11:65641117-65641128 chr11:65641117-65641129 chr11:65640980-65640994 chr11:65641170-65641179
32	SP1	chr11:65640819-65641447	GM12878	blood:	n/a	chr11:65641106-65641117 chr11:65641094-65641104 chr11:65641117-65641129 chr11:65641169-65641179 chr11:65641118-65641127 chr11:65641118-65641128 chr11:65641094-65641104 chr11:65641168-65641179 chr11:65640833-65640847 chr11:65641119-65641128 chr11:65641117-65641128 chr11:65641117-65641129 chr11:65640980-65640994 chr11:65641170-65641179
33	E2F6	chr11:65640957-65641395	K562	blood:	n/a	chr11:65641183-65641190 chr11:65641183-65641190 chr11:65641179-65641191 chr11:65641183-65641190 chr11:65641173-65641183 chr11:65641180-65641191
34	TBP	chr11:65640917-65641531	K562	blood:	n/a	n/a
35	POLR2A	chr11:65640261-65641434	K562	blood:	n/a	n/a
36	SIN3AK20	chr11:65640726-65641408	SK-N-SH	brain:	n/a	n/a
37	SREBP2	chr11:65640337-65641826	GM12878	blood:	n/a	n/a
38	YY1	chr11:65640693-65641505	H1-hESC	embryonic stem cell:	n/a	chr11:65641078-65641087
39	BCLAF1	chr11:65640997-65641508	GM12878	blood:	n/a	n/a
40	E2F4	chr11:65640985-65641373	MCF10A-Er-Src	breast:	n/a	chr11:65641183-65641190 chr11:65641183-65641190 chr11:65641179-65641191 chr11:65641183-65641190 chr11:65641173-65641183
41	BCL3	chr11:65640862-65641506	A549	lung:	n/a	n/a
42	POLR2A	chr11:65640023-65641431	HUVEC	blood vessel:	n/a	n/a
43	MYC	chr11:65640865-65641375	MCF-7	breast:	n/a	n/a
44	BHLHE40	chr11:65640916-65641449	K562	blood:	n/a	n/a
45	TCF12	chr11:65640875-65641504	ECC-1	luminal epithelium:	n/a	n/a
46	BHLHE40	chr11:65640936-65641500	HepG2	liver:	n/a	n/a
47	SIN3AK20	chr11:65641096-65641473	PFSK-1	brain:	n/a	n/a
48	ATF3	chr11:65641155-65641393	H1-hESC	embryonic stem cell:	n/a	chr11:65641272-65641292 chr11:65641160-65641180
49	USF2	chr11:65641111-65641395	HepG2	liver:	n/a	chr11:65641271-65641282
50	RELA	chr11:65640989-65641451	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65641335-65641385	HEEpiC	esophagus:	n/a
2	chr11:65641335-65641385	AG10803	skin:	n/a
3	chr11:65641335-65641385	ovcar-3	ovarian:	n/a
4	chr11:65641335-65641385	SAEC	small airway:	n/a
5	chr11:65641335-65641385	HCM	heart:	n/a
6	chr11:65641335-65641385	HAEpiC	amniotic membrane:	n/a
7	chr11:65641335-65641385	HepG2	liver:	n/a
8	chr11:65641335-65641385	Hela-S3	cervix:	n/a
9	chr11:65641335-65641385	BJ	skin:	n/a
10	chr11:65641335-65641385	HNPCEpiC	eye:	n/a
11	chr11:65641335-65641385	HMEC	breast:	n/a
12	chr11:65641335-65641385	Caco-2	colon:	n/a
13	chr11:65641335-65641385	HL-60	blood:	n/a
14	chr11:65641335-65641385	A549	lung:	n/a
15	chr11:65641335-65641385	SK-N-SH	brain:	n/a
16	chr11:65641335-65641385	AG09309	skin:	n/a
17	chr11:65641335-65641385	HEK293	kidney:	embryo
18	chr11:65641335-65641385	GM19239	blood:	n/a
19	chr11:65641335-65641385	ProgFib	skin:	n/a
20	chr11:65641335-65641385	NB4	blood:	n/a
21	chr11:65641335-65641385	Hepatocyte	liver:	n/a
22	chr11:65641335-65641385	HRE	kidney:	n/a
23	chr11:65641335-65641385	HCT-116	colon:	n/a
24	chr11:65641335-65641385	U87	brain:	n/a
25	chr11:65641335-65641385	IMR90	lung:	fetal
26	chr11:65641335-65641385	CMK	blood:	n/a
27	chr11:65641335-65641385	MCF10A-Er-Src	breast:	n/a
28	chr11:65641335-65641385	HUVEC	blood vessel:	n/a
29	chr11:65641335-65641385	NH-A	brain:	n/a
30	chr11:65641335-65641385	ECC-1	luminal epithelium:	n/a
31	chr11:65641335-65641385	MCF-7	breast:	n/a
32	chr11:65641335-65641385	Jurkat	blood:	n/a
33	chr11:65641335-65641385	PANC-1	pancreas:	n/a
34	chr11:65641335-65641385	HRPEpiC	eye:	n/a
35	chr11:65641335-65641385	AG04449	skin:	fetal
36	chr11:65641335-65641385	NHDF-neo	bronchial:	n/a
37	chr11:65641335-65641385	LNCaP	prostate:	n/a
38	chr11:65641335-65641385	RPTEC	kidney:	n/a
39	chr11:65641335-65641385	K562	blood:	n/a
40	chr11:65641335-65641385	GM06990	blood:	n/a
41	chr11:65641335-65641385	H1-hESC	embryonic stem cell:	embryo
42	chr11:65641335-65641385	HCF	heart:	n/a
43	chr11:65641335-65641385	AG04450	lung:	fetal
44	chr11:65641335-65641385	AG09319	gingival:	n/a
45	chr11:65641335-65641385	NHBE	bronchial:	n/a
46	chr11:65641335-65641385	AoSMC	blood vessel:	n/a
47	chr11:65641335-65641385	GM12878	blood:	n/a
48	chr11:65641335-65641385	GM12892	blood:	n/a
49	chr11:65641335-65641385	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:65641335-65641385	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65640551..65642134-chr11:65685115..65687811,2	MCF-7	breast:
2	chr11:65482061..65486231-chr11:65638918..65641829,3	K562	blood:
3	chr11:65638895..65641565-chr11:65834356..65837225,2	K562	blood:
4	chr11:65547235..65549033-chr11:65639667..65642031,2	K562	blood:
5	chr11:65639484..65641571-chr8:144697740..144699528,2	MCF-7	breast:

Variant related genes	Relation type
EFEMP2	TF binding region
EFEMP2	CpG island
ENSG00000255038	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000104522	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000175550	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897763	chr11:65613348-65644027	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
10	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
11	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
12	nsv897766	chr11:65624025-65644027	Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
13	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
14	esv999644	chr11:65636167-65646034	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	esv1797198	chr11:65637273-65642343	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	esv3371600	chr11:65640076-65645374	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	esv3496466	chr11:65640876-65644674	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
18	nsv511466	chr11:65640906-65642441	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
19	esv3326010	chr11:65641201-65644749	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65639200-65641600	Active TSS	Brain Substantia Nigra	brain
2	chr11:65639400-65641400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:65639400-65641400	Active TSS	Aorta	Aorta
4	chr11:65639400-65641400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr11:65639400-65641400	Active TSS	Fetal Kidney	kidney
6	chr11:65639400-65641600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:65639400-65641600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:65639400-65641600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:65639400-65641600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:65639400-65641600	Active TSS	Brain Angular Gyrus	brain
11	chr11:65639400-65641600	Active TSS	Right Atrium	heart
12	chr11:65639400-65641600	Active TSS	HSMM	muscle
13	chr11:65639400-65641600	Active TSS	NHDF-Ad	bronchial
14	chr11:65639600-65641400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:65639600-65641400	Active TSS	Gastric	stomach
16	chr11:65639600-65641600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:65639600-65641600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:65639600-65641600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:65639600-65641600	Active TSS	Colon Smooth Muscle	Colon
20	chr11:65639600-65641600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr11:65639600-65641600	Active TSS	Left Ventricle	heart
22	chr11:65639600-65641600	Active TSS	Ovary	ovary
23	chr11:65639600-65641800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:65639800-65641400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr11:65639800-65641400	Active TSS	Lung	lung
26	chr11:65639800-65641400	Active TSS	Right Ventricle	heart
27	chr11:65639800-65641400	Active TSS	Small Intestine	intestine
28	chr11:65639800-65641600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:65639800-65641600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:65639800-65641600	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr11:65639800-65641600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr11:65639800-65641600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:65639800-65641600	Active TSS	Psoas Muscle	Psoas
34	chr11:65640000-65641400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:65640000-65641600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:65640000-65641600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr11:65640200-65641600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr11:65640200-65641600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:65640400-65641400	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr11:65640400-65641400	Flanking Active TSS	HMEC	breast
41	chr11:65640400-65641600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr11:65640400-65641600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr11:65640400-65641600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr11:65640400-65641600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr11:65640400-65641600	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr11:65640400-65641600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr11:65640400-65641600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr11:65640400-65641600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:65640400-65641600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:65640400-65641600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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