Variant report

Variant	rs547223045
Chromosome Location	chr11:120206239-120206240
allele	C/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	MXI1	chr11:120205600-120209978	SK-N-SH	brain:	n/a	n/a
2	TBL1XR1	chr11:120205636-120208064	GM12878	blood:	n/a	n/a
3	YY1	chr11:120205795-120206264	SK-N-SH_RA	brain:	n/a	chr11:120206025-120206033
4	POLR2A	chr11:120206161-120207970	PANC-1	pancreas:	n/a	n/a
5	RAD21	chr11:120205587-120209218	SK-N-SH	brain:	n/a	chr11:120207479-120207493 chr11:120207240-120207254 chr11:120205685-120205699 chr11:120205686-120205705 chr11:120207368-120207382
6	RFX5	chr11:120205578-120206390	Hela-S3	cervix:	n/a	chr11:120206334-120206347
7	MTA3	chr11:120205595-120207058	GM12878	blood:	n/a	n/a
8	CHD1	chr11:120205964-120207427	GM12878	blood:	n/a	n/a
9	MYC	chr11:120205614-120206319	MCF10A-Er-Src	breast:	n/a	chr11:120206139-120206150
10	POLR2A	chr11:120205612-120208129	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr11:120206140-120206290	GM12873	blood:	n/a	chr11:120206188-120206196
12	MYC	chr11:120205574-120206419	MCF10A-Er-Src	breast:	n/a	chr11:120206139-120206150 chr11:120206335-120206344
13	CREB1	chr11:120205615-120206242	HepG2	liver:	n/a	n/a
14	TCF12	chr11:120206199-120207252	ECC-1	luminal epithelium:	n/a	chr11:120206448-120206458 chr11:120206229-120206236
15	TCF7L2	chr11:120205676-120206982	HEK293	kidney:	n/a	n/a
16	BRCA1	chr11:120205626-120206298	Hela-S3	cervix:	n/a	n/a
17	TBP	chr11:120205746-120208628	HepG2	liver:	n/a	n/a
18	CTCF	chr11:120205546-120207543	SK-N-SH	brain:	n/a	chr11:120205687-120205708 chr11:120205688-120205696 chr11:120206188-120206196 chr11:120205686-120205702 chr11:120205685-120205703
19	CTCF	chr11:120205588-120207094	HCT-116	colon:	n/a	chr11:120205687-120205708 chr11:120205688-120205696 chr11:120206188-120206196 chr11:120205686-120205702 chr11:120205685-120205703
20	REST	chr11:120206027-120208034	H1-neurons	neurons:	n/a	chr11:120207291-120207304 chr11:120207288-120207301 chr11:120207288-120207308 chr11:120207288-120207308 chr11:120207289-120207307 chr11:120206816-120206829 chr11:120207288-120207308 chr11:120206490-120206508
21	POLR2A	chr11:120206173-120207869	SK-N-SH	brain:	n/a	n/a
22	CUX1	chr11:120205753-120207029	GM12878	blood:	n/a	n/a
23	HCFC1	chr11:120205622-120207985	Hela-S3	cervix:	n/a	n/a
24	E2F4	chr11:120205670-120206263	MCF10A-Er-Src	breast:	n/a	n/a
25	MXI1	chr11:120205619-120208426	IMR90	lung:	n/a	n/a
26	YY1	chr11:120205826-120206280	ECC-1	luminal epithelium:	n/a	chr11:120206025-120206033
27	MAZ	chr11:120206129-120208775	IMR90	lung:	n/a	chr11:120206139-120206150 chr11:120206335-120206344
28	CTCF	chr11:120206100-120206250	AG04450	lung:	n/a	chr11:120206188-120206196
29	POLR2A	chr11:120205607-120208112	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr11:120205544-120208356	MCF10A-Er-Src	breast:	n/a	n/a
31	YY1	chr11:120205798-120206267	SK-N-SH_RA	brain:	n/a	chr11:120206025-120206033
32	CHD1	chr11:120205589-120210843	IMR90	lung:	n/a	n/a
33	TBL1XR1	chr11:120205772-120207279	K562	blood:	n/a	n/a
34	KAP1	chr11:120205665-120207054	HEK293	kidney:	n/a	n/a
35	STAT3	chr11:120205567-120206312	MCF10A-Er-Src	breast:	n/a	n/a
36	CTCF	chr11:120206120-120206270	HCPEpiC	choroid plexus:	n/a	chr11:120206188-120206196
37	POLR2A	chr11:120205653-120208317	Hela-S3	cervix:	n/a	n/a
38	ZNF263	chr11:120205765-120208381	HEK293-T-REx	kidney:	n/a	chr11:120207890-120207911 chr11:120207232-120207241 chr11:120207889-120207898
39	MTA3	chr11:120205595-120208175	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:120205701-120208357	GM12878	blood:	n/a	n/a
41	RAD21	chr11:120205528-120208301	IMR90	lung:	n/a	chr11:120207479-120207493 chr11:120207240-120207254 chr11:120205685-120205699 chr11:120205686-120205705 chr11:120207368-120207382
42	TBP	chr11:120205593-120206980	Hela-S3	cervix:	n/a	n/a
43	TAF1	chr11:120206237-120207792	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr11:120205654-120208640	GM12891	blood:	n/a	n/a
45	POLR2A	chr11:120205574-120206312	HUVEC	blood vessel:	n/a	n/a
46	MYC	chr11:120205603-120207627	K562	blood:	n/a	chr11:120206139-120206150 chr11:120206335-120206344
47	POLR2A	chr11:120205667-120208739	HepG2	liver:	n/a	n/a
48	POLR2A	chr11:120205589-120208297	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:120205602-120208352	IMR90	lung:	n/a	n/a
50	STAT3	chr11:120205656-120206378	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120197781..120201028-chr11:120203553..120206762,3	MCF-7	breast:
2	chr11:120204970..120207228-chr21:46755550..46757641,2	K562	blood:
3	chr11:120205769..120208609-chr11:120306177..120309218,3	MCF-7	breast:
4	chr11:120205411..120207219-chr11:120322379..120324809,2	MCF-7	breast:
5	chr11:120105780..120109103-chr11:120204882..120208710,5	K562	blood:
6	chr11:120201509..120203556-chr11:120205430..120206977,2	MCF-7	breast:
7	chr11:120196111..120201143-chr11:120204363..120207628,7	K562	blood:
8	chr11:120205169..120207270-chr11:120327184..120328728,2	K562	blood:
9	chr11:120105523..120107872-chr11:120205217..120207566,2	MCF-7	breast:
10	chr11:120206196..120207138-chr17:41465190..41465809,2	Hela-S3	cervix:
11	chr11:120105780..120109103-chr11:120204882..120208710,8	K562	blood:
12	chr11:120201225..120203829-chr11:120204191..120207304,3	K562	blood:
13	chr11:120194862..120197585-chr11:120203291..120207610,4	MCF-7	breast:

Variant related genes	Relation type
ARHGEF12	TF binding region
ENSG00000137709	Chromatin interaction
ENSG00000196914	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000229382	Chromatin interaction
ENSG00000181264	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv3360321	chr11:120205767-120208715	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 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	chr11:120196400-120206400	Weak transcription	Gastric	stomach
2	chr11:120198400-120206400	Weak transcription	Lung	lung
3	chr11:120198400-120206400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:120201200-120206400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:120201200-120206400	Weak transcription	Spleen	Spleen
6	chr11:120203600-120206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:120203600-120206400	Weak transcription	Esophagus	oesophagus
8	chr11:120205200-120206400	Weak transcription	Small Intestine	intestine
9	chr11:120205600-120206400	Flanking Active TSS	Osteobl	bone
10	chr11:120205600-120206600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:120205600-120206600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:120205600-120206600	Flanking Active TSS	HSMMtube	muscle
13	chr11:120205600-120206600	Flanking Active TSS	HUVEC	blood vessel
14	chr11:120205600-120206800	Active TSS	Fetal Brain Male	brain
15	chr11:120205600-120207000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:120205600-120207000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:120205600-120207200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:120205600-120208200	Active TSS	Stomach Smooth Muscle	stomach
19	chr11:120205600-120208600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:120205600-120208800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:120205600-120209000	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr11:120205600-120209000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:120205600-120209400	Active TSS	Brain Hippocampus Middle	brain
24	chr11:120205600-120209400	Active TSS	Fetal Intestine Large	intestine
25	chr11:120205600-120209600	Active TSS	Fetal Muscle Trunk	muscle
26	chr11:120205600-120210000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr11:120205600-120210000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr11:120205600-120210000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:120205600-120210000	Active TSS	Colon Smooth Muscle	Colon
30	chr11:120205600-120210000	Active TSS	Hela-S3	cervix
31	chr11:120205600-120210200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:120205600-120210200	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr11:120205600-120210200	Active TSS	A549	lung
34	chr11:120205600-120210600	Active TSS	Brain Cingulate Gyrus	brain
35	chr11:120205600-120210800	Active TSS	Colonic Mucosa	Colon
36	chr11:120205600-120211600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:120205800-120206400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:120205800-120206400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:120205800-120206400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:120205800-120206400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:120205800-120206400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr11:120205800-120206400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:120205800-120206400	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr11:120205800-120206400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
45	chr11:120205800-120206400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:120205800-120206400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr11:120205800-120206400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr11:120205800-120206400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:120205800-120206400	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr11:120205800-120206400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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