Variant report

Variant	rs539387830
Chromosome Location	chr11:65687717-65687718
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	MYC	chr11:65686693-65687997	A549	lung:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
2	EGR1	chr11:65685178-65687788	HCT-116	colon:	n/a	chr11:65687121-65687136 chr11:65687354-65687367 chr11:65687123-65687133 chr11:65686611-65686625 chr11:65686295-65686305 chr11:65686845-65686860 chr11:65686846-65686859 chr11:65687595-65687608 chr11:65686717-65686730 chr11:65687155-65687165 chr11:65686846-65686859 chr11:65686846-65686860 chr11:65686846-65686859 chr11:65686849-65686859 chr11:65687122-65687135 chr11:65687712-65687722 chr11:65687157-65687170 chr11:65687297-65687311 chr11:65686849-65686858 chr11:65686846-65686859 chr11:65687120-65687130
3	MAZ	chr11:65684129-65687972	IMR90	lung:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
4	EBF1	chr11:65687318-65687807	GM12878	blood:	n/a	n/a
5	MAX	chr11:65685758-65687963	MCF-7	breast:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
6	HCFC1	chr11:65685563-65688075	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:65681960-65688394	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr11:65687592-65687945	U87	brain:	n/a	n/a
9	CTCF	chr11:65687580-65687730	Hela-S3	cervix:	n/a	n/a
10	RUNX3	chr11:65687299-65687733	GM12878	blood:	n/a	n/a
11	CTCF	chr11:65687629-65687727	GM10266	blood:	n/a	n/a
12	ELF1	chr11:65685845-65688085	GM12878	blood:	n/a	chr11:65686336-65686348 chr11:65686030-65686042 chr11:65686555-65686567 chr11:65686562-65686574 chr11:65686932-65686941
13	ZBTB7A	chr11:65686995-65687735	ECC-1	luminal epithelium:	n/a	n/a
14	MXI1	chr11:65685333-65688811	IMR90	lung:	n/a	n/a
15	MAX	chr11:65684998-65688252	A549	lung:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
16	RCOR1	chr11:65685260-65688557	IMR90	lung:	n/a	n/a
17	POLR2A	chr11:65681389-65688769	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr11:65686676-65687882	GM12878	blood:	n/a	n/a
19	MAX	chr11:65686221-65687742	HepG2	liver:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
20	ZNF263	chr11:65687579-65688223	HEK293-T-REx	kidney:	n/a	n/a
21	SIN3AK20	chr11:65685794-65688201	PANC-1	pancreas:	n/a	n/a
22	MAX	chr11:65685822-65687775	HepG2	liver:	n/a	chr11:65687367-65687377 chr11:65687122-65687132 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687018-65687027 chr11:65687017-65687027 chr11:65687018-65687028 chr11:65687017-65687028 chr11:65687354-65687363 chr11:65687016-65687026 chr11:65687019-65687026 chr11:65687016-65687029 chr11:65687017-65687028
23	MAX	chr11:65685758-65687718	A549	lung:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
24	POLR2A	chr11:65686412-65688042	U87	brain:	n/a	n/a
25	POLR2A	chr11:65686406-65688364	U87	brain:	n/a	n/a
26	POLR2A	chr11:65687174-65688043	U87	brain:	n/a	n/a
27	MXI1	chr11:65685306-65688346	SK-N-SH	brain:	n/a	n/a
28	MAX	chr11:65684605-65687730	HCT-116	colon:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
29	REST	chr11:65685644-65687882	H1-neurons	neurons:	n/a	chr11:65687695-65687705
30	SIN3AK20	chr11:65685545-65687916	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:65687620-65687770	GM12871	blood:	n/a	n/a
32	CTCF	chr11:65687600-65687750	HBMEC	blood vessel:	n/a	n/a
33	SIN3A	chr11:65686080-65687904	H1-hESC	embryonic stem cell:	n/a	chr11:65686852-65686863

No.	Distal block	Cell Line	Cell type
1	chr11:65686637..65688948-chr11:65818033..65819758,2	MCF-7	breast:
2	chr11:65686028..65688370-chr14:24657521..24659456,2	MCF-7	breast:
3	chr11:65685704..65687769-chr16:2199138..2200731,2	MCF-7	breast:
4	chr11:65686358..65687859-chr13:91999900..92001660,2	K562	blood:
5	chr11:65430177..65431911-chr11:65686267..65688055,2	K562	blood:
6	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
7	chr11:65342886..65345023-chr11:65685103..65687892,2	MCF-7	breast:
8	chr11:65686026..65690385-chr11:65711034..65716101,7	MCF-7	breast:
9	chr11:65640551..65642134-chr11:65685115..65687811,2	MCF-7	breast:
10	chr11:65685063..65688035-chr11:65836071..65837888,2	MCF-7	breast:
11	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
12	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
13	chr11:65556129..65558020-chr11:65687401..65689807,2	MCF-7	breast:
14	chr11:65685854..65687838-chr13:92002138..92004111,2	K562	blood:
15	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
16	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
17	chr11:65478095..65481080-chr11:65686637..65690416,3	MCF-7	breast:
18	chr11:65488196..65490800-chr11:65684778..65687737,2	MCF-7	breast:
19	chr11:65552272..65555849-chr11:65684886..65688039,3	MCF-7	breast:

Variant related genes	Relation type
C11orf68	TF binding region
DRAP1	TF binding region
ENSG00000167964	Chromatin interaction
ENSG00000175513	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175467	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv897767	chr11:65683531-65690206	Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3325633	chr11:65685401-65688349	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
12	esv3406227	chr11:65685726-65687774	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
13	esv3444925	chr11:65687425-65714023	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr11:65685200-65688000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:65685400-65688000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:65685400-65688000	Active TSS	Aorta	Aorta
4	chr11:65685400-65688400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr11:65685600-65687800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:65685600-65687800	Active TSS	Small Intestine	intestine
7	chr11:65685600-65688000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:65685600-65688200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:65685600-65688200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:65685800-65687800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:65685800-65687800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:65685800-65687800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:65685800-65687800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:65685800-65687800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:65685800-65687800	Active TSS	Colon Smooth Muscle	Colon
16	chr11:65685800-65687800	Active TSS	Gastric	stomach
17	chr11:65685800-65687800	Active TSS	Left Ventricle	heart
18	chr11:65685800-65687800	Active TSS	Lung	lung
19	chr11:65685800-65687800	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr11:65685800-65687800	Active TSS	HSMM	muscle
21	chr11:65685800-65687800	Active TSS	NHLF	lung
22	chr11:65685800-65688000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr11:65685800-65688000	Active TSS	Fetal Kidney	kidney
24	chr11:65685800-65688000	Active TSS	NHDF-Ad	bronchial
25	chr11:65685800-65688200	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:65685800-65688200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:65686000-65687800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:65686000-65687800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:65686000-65687800	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr11:65686000-65687800	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr11:65686000-65687800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr11:65686000-65687800	Active TSS	Rectal Smooth Muscle	rectum
33	chr11:65686000-65687800	Active TSS	HSMMtube	muscle
34	chr11:65686000-65687800	Active TSS	NHEK	skin
35	chr11:65686000-65688200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr11:65686000-65688200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr11:65686200-65687800	Active TSS	HepG2	liver
38	chr11:65686200-65687800	Active TSS	Osteobl	bone
39	chr11:65686800-65688200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:65686800-65688600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
41	chr11:65687000-65688200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:65687200-65687800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr11:65687200-65688000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr11:65687200-65688000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:65687200-65688200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr11:65687200-65688200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:65687200-65688400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr11:65687200-65688400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:65687200-65688600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr11:65687200-65689000	Enhancers	Fetal Brain Male	brain

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