Variant report

Variant	rs12576136
Chromosome Location	chr11:66035196-66035197
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:279)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:66034706-66036038	K562	blood:	n/a	n/a
2	RCOR1	chr11:66035081-66036100	HepG2	liver:	n/a	n/a
3	BRCA1	chr11:66035038-66035404	GM12878	blood:	n/a	n/a
4	ZBTB33	chr11:66034962-66035475	K562	blood:	n/a	chr11:66035212-66035227
5	CTCF	chr11:66035160-66035310	SK-N-SH_RA	brain:	n/a	n/a
6	POLR2A	chr11:66035140-66035468	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr11:66035191-66035295	GM19240	blood:	n/a	n/a
8	JUND	chr11:66034677-66036364	K562	blood:	n/a	n/a
9	SP1	chr11:66034572-66035534	A549	lung:	n/a	chr11:66035468-66035477 chr11:66035118-66035129
10	MAX	chr11:66035067-66036328	GM12878	blood:	n/a	chr11:66036294-66036304
11	CTCF	chr11:66035142-66035323	HepG2	liver:	n/a	n/a
12	CTCF	chr11:66035120-66035270	GM12867	blood:	n/a	n/a
13	CTCF	chr11:66035120-66035270	GM12873	blood:	n/a	n/a
14	POLR2A	chr11:66034874-66036791	GM18505	blood:	n/a	n/a
15	CTCF	chr11:66035160-66035310	AG09319	gingival:	n/a	n/a
16	BCL3	chr11:66034973-66035582	GM12878	blood:	n/a	chr11:66035443-66035456
17	CTCF	chr11:66035160-66035304	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:66035110-66035572	HepG2	liver:	n/a	n/a
19	CTCF	chr11:66035060-66035210	RPTEC	kidney:	n/a	n/a
20	POLR2A	chr11:66034829-66037009	MCF-7	breast:	n/a	n/a
21	IRF1	chr11:66034752-66036326	K562	blood:	n/a	n/a
22	POLR2A	chr11:66034740-66036563	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr11:66034696-66036576	PFSK-1	brain:	n/a	n/a
24	ZNF143	chr11:66035151-66036557	K562	blood:	n/a	chr11:66036316-66036334 chr11:66035891-66035910 chr11:66035887-66035905
25	BRCA1	chr11:66035035-66035405	HepG2	liver:	n/a	n/a
26	CTCF	chr11:66035160-66035310	HEK293	kidney:	n/a	n/a
27	CTCFL	chr11:66035139-66035295	K562	blood:	n/a	n/a
28	TAF1	chr11:66035002-66035684	ECC-1	luminal epithelium:	n/a	n/a
29	CTCF	chr11:66035100-66035250	HVMF	connective:	n/a	n/a
30	POLR2A	chr11:66034860-66035565	ECC-1	luminal epithelium:	n/a	n/a
31	CTCF	chr11:66035170-66035404	IMR90	lung:	n/a	n/a
32	MXI1	chr11:66034915-66036527	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:66034805-66036267	GM12891	blood:	n/a	n/a
34	POLR2A	chr11:66035172-66036299	HepG2	liver:	n/a	n/a
35	ATF2	chr11:66035105-66036118	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:66034859-66036289	PBDE	blood:	n/a	n/a
37	ETS1	chr11:66035122-66036533	A549	lung:	n/a	chr11:66036174-66036185 chr11:66036138-66036149 chr11:66035886-66035899
38	POLR2A	chr11:66034779-66036918	K562	blood:	n/a	n/a
39	CTCF	chr11:66035140-66035290	HCT-116	colon:	n/a	n/a
40	ZNF143	chr11:66034867-66036663	GM12878	blood:	n/a	chr11:66036316-66036334 chr11:66035891-66035910 chr11:66035887-66035905
41	POLR2A	chr11:66034783-66036668	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:66034926-66035513	A549	lung:	n/a	n/a
43	POLR2A	chr11:66034867-66036724	GM19193	blood:	n/a	n/a
44	CTCF	chr11:66035182-66035331	Spleen_OC	spleen:	n/a	n/a
45	POLR2A	chr11:66035099-66036425	HepG2	liver:	n/a	n/a
46	STAT5A	chr11:66035184-66036032	GM12878	blood:	n/a	chr11:66036001-66036010 chr11:66035996-66036016 chr11:66036002-66036010 chr11:66035999-66036013 chr11:66036002-66036011
47	ZBTB33	chr11:66034959-66035477	A549	lung:	n/a	chr11:66035212-66035227
48	ZBTB7A	chr11:66034779-66035526	K562	blood:	n/a	chr11:66035358-66035366 chr11:66035359-66035367
49	FOXP2	chr11:66034928-66035286	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr11:66035051-66036559	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66035147-66035197	NB4	blood:	n/a
2	chr11:66035147-66035197	Jurkat	blood:	n/a
3	chr11:66035147-66035197	T-47D	breast:	n/a
4	chr11:66035147-66035197	SK-N-MC	brain:	n/a
5	chr11:66035147-66035197	NHBE	bronchial:	n/a
6	chr11:66035147-66035197	IMR90	lung:	fetal
7	chr11:66035147-66035197	HUVEC	blood vessel:	n/a
8	chr11:66035147-66035197	HRE	kidney:	n/a
9	chr11:66035147-66035197	GM06990	blood:	n/a
10	chr11:66035147-66035197	AG09309	skin:	n/a
11	chr11:66035147-66035197	Caco-2	colon:	n/a
12	chr11:66035147-66035197	HRCEpiC	kidney:	n/a
13	chr11:66035147-66035197	HCPEpiC	choroid plexus:	n/a
14	chr11:66035147-66035197	BE2_C	brain:	n/a
15	chr11:66035147-66035197	NT2-D1	testis:	n/a
16	chr11:66035147-66035197	MCF10A-Er-Src	breast:	n/a
17	chr11:66035147-66035197	GM12878	blood:	n/a
18	chr11:66035147-66035197	ProgFib	skin:	n/a
19	chr11:66035147-66035197	PANC-1	pancreas:	n/a
20	chr11:66035147-66035197	PrEC	prostate:	n/a
21	chr11:66035147-66035197	HL-60	blood:	n/a
22	chr11:66035147-66035197	K562	blood:	n/a
23	chr11:66035147-66035197	HMEC	breast:	n/a
24	chr11:66035147-66035197	ECC-1	luminal epithelium:	n/a
25	chr11:66035147-66035197	GM12891	blood:	n/a
26	chr11:66035147-66035197	AG09319	gingival:	n/a
27	chr11:66035147-66035197	AoSMC	blood vessel:	n/a
28	chr11:66035147-66035197	BJ	skin:	n/a
29	chr11:66035147-66035197	PFSK-1	brain:	n/a
30	chr11:66035147-66035197	HEEpiC	esophagus:	n/a
31	chr11:66035147-66035197	MCF-7	breast:	n/a
32	chr11:66035147-66035197	NHDF-neo	bronchial:	n/a
33	chr11:66035147-66035197	HPAEpiC	pulmonary alveolar:	n/a
34	chr11:66035147-66035197	HIPEpiC	eye:	n/a
35	chr11:66035147-66035197	NH-A	brain:	n/a
36	chr11:66035147-66035197	HepG2	liver:	n/a
37	chr11:66035147-66035197	A549	lung:	n/a
38	chr11:66035147-66035197	U87	brain:	n/a
39	chr11:66035147-66035197	HRPEpiC	eye:	n/a
40	chr11:66035147-66035197	SK-N-SH	brain:	n/a
41	chr11:66035147-66035197	AG04450	lung:	fetal
42	chr11:66035147-66035197	HCT-116	colon:	n/a
43	chr11:66035147-66035197	SAEC	small airway:	n/a
44	chr11:66035147-66035197	ovcar-3	ovarian:	n/a
45	chr11:66035147-66035197	LNCaP	prostate:	n/a
46	chr11:66035147-66035197	HEK293	kidney:	embryo
47	chr11:66035147-66035197	GM19239	blood:	n/a
48	chr11:66035147-66035197	RPTEC	kidney:	n/a
49	chr11:66035147-66035197	HCM	heart:	n/a
50	chr11:66035147-66035197	Hepatocyte	liver:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65624882..65627968-chr11:66034504..66038316,6	K562	blood:
2	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:
3	chr11:66033236..66035909-chr11:66113505..66116691,3	K562	blood:
4	chr11:65625132..65628506-chr11:66035169..66036764,3	K562	blood:
5	chr11:65666389..65668880-chr11:66033377..66036542,3	K562	blood:
6	chr11:66025383..66026303-chr11:66034980..66036455,5	K562	blood:
7	chr11:65836630..65840121-chr11:66032259..66035828,5	MCF-7	breast:
8	chr11:65655875..65658695-chr11:66035091..66037770,2	MCF-7	breast:
9	chr11:66033076..66035331-chr11:66114524..66116038,2	MCF-7	breast:
10	chr11:66034904..66037277-chr17:57914562..57916871,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YIF1A-3	chr11:66035106-66035302	ENSG00000254762.1

No data

Variant related genes	Relation type
RAB1B	TF binding region
ENSG00000254855	TF binding region
RAB1B	CpG island
ENSG00000254855	CpG island
ENSG00000172500	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000255468	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000179292	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000175592	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11227405	0.87[ASN][1000 genomes]
rs12576868	0.90[ASN][1000 genomes]
rs12577589	0.93[ASN][1000 genomes]
rs2139968	0.95[ASN][1000 genomes]
rs2298446	1.00[ASN][1000 genomes]
rs471203	0.90[ASN][1000 genomes]
rs58244723	1.00[ASN][1000 genomes]
rs9787882	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 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	chr11:66026200-66035200	Weak transcription	Small Intestine	intestine
2	chr11:66026600-66035200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:66032800-66036000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:66034000-66035200	Enhancers	Fetal Heart	heart
5	chr11:66034200-66036000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:66034400-66035200	Enhancers	Primary B cells from cord blood	blood
7	chr11:66034400-66035800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr11:66034400-66036000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr11:66034400-66036000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:66034400-66036800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr11:66034400-66037000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:66034400-66037000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:66034400-66037000	Active TSS	Fetal Kidney	kidney
14	chr11:66034400-66037200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:66034600-66035200	Active TSS	NHLF	lung
16	chr11:66034600-66035400	Active TSS	NH-A	brain
17	chr11:66034600-66035800	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr11:66034600-66035800	Flanking Active TSS	Placenta	Placenta
19	chr11:66034600-66035800	Flanking Active TSS	HMEC	breast
20	chr11:66034600-66036000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr11:66034600-66036000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr11:66034600-66036600	Active TSS	Placenta Amnion	Placenta Amnion
23	chr11:66034600-66036800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr11:66034600-66037000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr11:66034600-66037000	Active TSS	Brain Anterior Caudate	brain
26	chr11:66034600-66037000	Active TSS	Colon Smooth Muscle	Colon
27	chr11:66034600-66037000	Active TSS	Fetal Lung	lung
28	chr11:66034600-66037000	Active TSS	Left Ventricle	heart
29	chr11:66034600-66037200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr11:66034600-66037200	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr11:66034600-66037200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:66034600-66037200	Active TSS	Aorta	Aorta
33	chr11:66034600-66037200	Active TSS	Ovary	ovary
34	chr11:66034600-66037400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr11:66034800-66035200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:66034800-66035200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr11:66034800-66035200	Active TSS	Liver	Liver
38	chr11:66034800-66035200	Active TSS	Colonic Mucosa	Colon
39	chr11:66034800-66035200	Active TSS	Osteobl	bone
40	chr11:66034800-66035400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:66034800-66035400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:66034800-66035400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:66034800-66035400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:66034800-66035400	Active TSS	Fetal Intestine Large	intestine
45	chr11:66034800-66035400	Active TSS	Fetal Muscle Trunk	muscle
46	chr11:66034800-66035400	Active TSS	Stomach Smooth Muscle	stomach
47	chr11:66034800-66035400	Active TSS	GM12878-XiMat	blood
48	chr11:66034800-66035400	Active TSS	HUVEC	blood vessel
49	chr11:66034800-66035600	Active TSS	HepG2	liver
50	chr11:66034800-66035800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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