Variant report

Variant	rs543738162
Chromosome Location	chr11:65687908-65687909
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	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
3	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
4	HCFC1	chr11:65685563-65688075	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:65681960-65688394	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr11:65687592-65687945	U87	brain:	n/a	n/a
7	ELF1	chr11:65685845-65688085	GM12878	blood:	n/a	chr11:65686336-65686348 chr11:65686030-65686042 chr11:65686555-65686567 chr11:65686562-65686574 chr11:65686932-65686941
8	MXI1	chr11:65685333-65688811	IMR90	lung:	n/a	n/a
9	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
10	RCOR1	chr11:65685260-65688557	IMR90	lung:	n/a	n/a
11	POLR2A	chr11:65681389-65688769	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:65687850-65688238	PFSK-1	brain:	n/a	n/a
13	ZNF263	chr11:65687579-65688223	HEK293-T-REx	kidney:	n/a	n/a
14	GABPA	chr11:65687869-65688318	SK-N-SH	brain:	n/a	n/a
15	SIN3AK20	chr11:65685794-65688201	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr11:65686412-65688042	U87	brain:	n/a	n/a
17	POLR2A	chr11:65686406-65688364	U87	brain:	n/a	n/a
18	POLR2A	chr11:65687174-65688043	U87	brain:	n/a	n/a
19	MXI1	chr11:65685306-65688346	SK-N-SH	brain:	n/a	n/a
20	SIN3AK20	chr11:65685545-65687916	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65687877-65687927	HCPEpiC	choroid plexus:	n/a
2	chr11:65687892-65687942	PANC-1	pancreas:	n/a
3	chr11:65687892-65687942	GM06990	blood:	n/a
4	chr11:65687877-65687927	AoSMC	blood vessel:	n/a
5	chr11:65687877-65687927	HCT-116	colon:	n/a
6	chr11:65687877-65687927	AG04449	skin:	fetal
7	chr11:65687877-65687927	H1-hESC	embryonic stem cell:	embryo
8	chr11:65687877-65687927	HCM	heart:	n/a
9	chr11:65687877-65687927	HRCEpiC	kidney:	n/a
10	chr11:65687877-65687927	GM19239	blood:	n/a
11	chr11:65687892-65687942	Hela-S3	cervix:	n/a
12	chr11:65687892-65687942	AG10803	skin:	n/a
13	chr11:65687892-65687942	ProgFib	skin:	n/a
14	chr11:65687877-65687927	T-47D	breast:	n/a
15	chr11:65687892-65687942	HL-60	blood:	n/a
16	chr11:65687892-65687942	IMR90	lung:	fetal
17	chr11:65687877-65687927	HEK293	kidney:	embryo
18	chr11:65687892-65687942	SKMC	muscle:	n/a
19	chr11:65687877-65687927	AG10803	skin:	n/a
20	chr11:65687877-65687927	ovcar-3	ovarian:	n/a
21	chr11:65687877-65687927	K562	blood:	n/a
22	chr11:65687892-65687942	GM12878	blood:	n/a
23	chr11:65687892-65687942	HNPCEpiC	eye:	n/a
24	chr11:65687877-65687927	GM12892	blood:	n/a
25	chr11:65687892-65687942	BJ	skin:	n/a
26	chr11:65687877-65687927	SAEC	small airway:	n/a
27	chr11:65687877-65687927	HEEpiC	esophagus:	n/a
28	chr11:65687892-65687942	RPTEC	kidney:	n/a
29	chr11:65687892-65687942	HCPEpiC	choroid plexus:	n/a
30	chr11:65687877-65687927	HMEC	breast:	n/a
31	chr11:65687892-65687942	HCM	heart:	n/a
32	chr11:65687892-65687942	HIPEpiC	eye:	n/a
33	chr11:65687877-65687927	PANC-1	pancreas:	n/a
34	chr11:65687892-65687942	HRPEpiC	eye:	n/a
35	chr11:65687877-65687927	SKMC	muscle:	n/a
36	chr11:65687892-65687942	Caco-2	colon:	n/a
37	chr11:65687877-65687927	GM12878	blood:	n/a
38	chr11:65687892-65687942	SK-N-SH_RA	brain:	n/a
39	chr11:65687892-65687942	H1-hESC	embryonic stem cell:	embryo
40	chr11:65687892-65687942	AG09309	skin:	n/a
41	chr11:65687877-65687927	Caco-2	colon:	n/a
42	chr11:65687892-65687942	Jurkat	blood:	n/a
43	chr11:65687877-65687927	ProgFib	skin:	n/a
44	chr11:65687877-65687927	GM12891	blood:	n/a
45	chr11:65687892-65687942	HCT-116	colon:	n/a
46	chr11:65687877-65687927	RPTEC	kidney:	n/a
47	chr11:65687877-65687927	NH-A	brain:	n/a
48	chr11:65687877-65687927	HRE	kidney:	n/a
49	chr11:65687877-65687927	SK-N-SH_RA	brain:	n/a
50	chr11:65687892-65687942	SK-N-MC	brain:	n/a

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	chr11:65430177..65431911-chr11:65686267..65688055,2	K562	blood:
4	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
5	chr11:65686026..65690385-chr11:65711034..65716101,7	MCF-7	breast:
6	chr11:65685063..65688035-chr11:65836071..65837888,2	MCF-7	breast:
7	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
8	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
9	chr11:65556129..65558020-chr11:65687401..65689807,2	MCF-7	breast:
10	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
11	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
12	chr11:65478095..65481080-chr11:65686637..65690416,3	MCF-7	breast:
13	chr11:65552272..65555849-chr11:65684886..65688039,3	MCF-7	breast:

Variant related genes	Relation type
C11orf68	TF binding region
DRAP1	TF binding region
DRAP1	CpG island
C11orf68	CpG island
ENSG00000175513	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	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	chr11:65685600-65688000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:65685600-65688200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:65685600-65688200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:65685800-65688000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:65685800-65688000	Active TSS	Fetal Kidney	kidney
10	chr11:65685800-65688000	Active TSS	NHDF-Ad	bronchial
11	chr11:65685800-65688200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:65685800-65688200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:65686000-65688200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:65686000-65688200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:65686800-65688200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:65686800-65688600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
17	chr11:65687000-65688200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:65687200-65688000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr11:65687200-65688000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr11:65687200-65688200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr11:65687200-65688200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr11:65687200-65688400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr11:65687200-65688400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:65687200-65688600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr11:65687200-65689000	Enhancers	Fetal Brain Male	brain
26	chr11:65687400-65688000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:65687400-65688000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:65687400-65688000	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr11:65687400-65688000	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr11:65687400-65688000	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr11:65687400-65688000	Flanking Active TSS	Placenta	Placenta
32	chr11:65687400-65688200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:65687400-65688200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr11:65687400-65688200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr11:65687400-65688200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr11:65687400-65688200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:65687400-65688200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:65687400-65688200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:65687400-65688200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:65687400-65688200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr11:65687400-65688200	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr11:65687400-65688200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr11:65687400-65688400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr11:65687400-65688400	Flanking Active TSS	Liver	Liver
45	chr11:65687400-65688400	Flanking Active TSS	Pancreas	Pancrea
46	chr11:65687400-65688400	Flanking Active TSS	HUVEC	blood vessel
47	chr11:65687400-65688600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr11:65687400-65688600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:65687400-65688600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:65687400-65688600	Flanking Active TSS	Colonic Mucosa	Colon

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