Variant report

Variant	rs567807214
Chromosome Location	chr11:120205912-120205913
allele	-/ATC
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	UBTF	chr11:120205658-120205975	K562	blood:	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	SMC3	chr11:120205540-120206033	Hela-S3	cervix:	n/a	chr11:120205687-120205701 chr11:120205687-120205695
7	ELK1	chr11:120205649-120206130	Hela-S3	cervix:	n/a	n/a
8	GTF2F1	chr11:120205634-120206115	Hela-S3	cervix:	n/a	n/a
9	SPI1	chr11:120205586-120205937	HL-60	blood:	n/a	n/a
10	SIN3AK20	chr11:120205610-120205980	SK-N-SH	brain:	n/a	n/a
11	RFX5	chr11:120205578-120206390	Hela-S3	cervix:	n/a	chr11:120206334-120206347
12	MTA3	chr11:120205595-120207058	GM12878	blood:	n/a	n/a
13	FOXA1	chr11:120205597-120205931	HepG2	liver:	n/a	chr11:120205760-120205772
14	POLR2A	chr11:120205766-120206068	Hela-S3	cervix:	n/a	n/a
15	JUN	chr11:120205621-120206104	K562	blood:	n/a	n/a
16	CEBPB	chr11:120205610-120206145	ECC-1	luminal epithelium:	n/a	chr11:120205769-120205780
17	SMC3	chr11:120205533-120206154	GM12878	blood:	n/a	chr11:120205687-120205701 chr11:120205687-120205695
18	MYC	chr11:120205614-120206319	MCF10A-Er-Src	breast:	n/a	chr11:120206139-120206150
19	FOS	chr11:120205596-120206197	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:120205569-120206096	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:120205612-120208129	Hela-S3	cervix:	n/a	n/a
22	MYC	chr11:120205574-120206419	MCF10A-Er-Src	breast:	n/a	chr11:120206139-120206150 chr11:120206335-120206344
23	CREB1	chr11:120205615-120206242	HepG2	liver:	n/a	n/a
24	CTCF	chr11:120205592-120205998	HCT-116	colon:	n/a	chr11:120205687-120205708 chr11:120205688-120205696 chr11:120205686-120205702 chr11:120205685-120205703
25	FOXA2	chr11:120205604-120205955	A549	lung:	n/a	chr11:120205760-120205772
26	POLR2A	chr11:120205744-120206147	Hela-S3	cervix:	n/a	n/a
27	TCF7L2	chr11:120205676-120206982	HEK293	kidney:	n/a	n/a
28	ZNF143	chr11:120205525-120205958	GM12878	blood:	n/a	n/a
29	BRCA1	chr11:120205626-120206298	Hela-S3	cervix:	n/a	n/a
30	TBP	chr11:120205746-120208628	HepG2	liver:	n/a	n/a
31	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
32	CTCF	chr11:120205588-120207094	HCT-116	colon:	n/a	chr11:120205687-120205708 chr11:120205688-120205696 chr11:120206188-120206196 chr11:120205686-120205702 chr11:120205685-120205703
33	MEF2A	chr11:120205576-120206023	GM12878	blood:	n/a	chr11:120205755-120205769
34	FOXA2	chr11:120205595-120205918	HepG2	liver:	n/a	chr11:120205760-120205772
35	CUX1	chr11:120205753-120207029	GM12878	blood:	n/a	n/a
36	CEBPB	chr11:120205610-120206149	A549	lung:	n/a	chr11:120205769-120205780
37	ATF2	chr11:120205568-120206066	GM12878	blood:	n/a	n/a
38	RAD21	chr11:120205597-120205935	GM12878	blood:	n/a	chr11:120205685-120205699 chr11:120205686-120205705
39	HCFC1	chr11:120205622-120207985	Hela-S3	cervix:	n/a	n/a
40	RAD21	chr11:120205587-120206005	SK-N-SH_RA	brain:	n/a	chr11:120205685-120205699 chr11:120205686-120205705
41	CTCF	chr11:120205595-120205951	A549	lung:	n/a	chr11:120205687-120205708 chr11:120205688-120205696 chr11:120205686-120205702 chr11:120205685-120205703
42	RAD21	chr11:120205535-120205995	HepG2	liver:	n/a	chr11:120205685-120205699 chr11:120205686-120205705
43	E2F4	chr11:120205670-120206263	MCF10A-Er-Src	breast:	n/a	n/a
44	MXI1	chr11:120205619-120208426	IMR90	lung:	n/a	n/a
45	FOXA1	chr11:120205568-120205923	T-47D	breast:	n/a	chr11:120205760-120205772
46	MEF2A	chr11:120205600-120206035	K562	blood:	n/a	chr11:120205755-120205769
47	YY1	chr11:120205826-120206280	ECC-1	luminal epithelium:	n/a	chr11:120206025-120206033
48	CEBPB	chr11:120205596-120206130	IMR90	lung:	n/a	chr11:120205769-120205780
49	RAD21	chr11:120205585-120206000	HepG2	liver:	n/a	chr11:120205685-120205699 chr11:120205686-120205705
50	POLR2A	chr11:120205591-120206168	HUVEC	blood vessel:	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	chr11:120105780..120109103-chr11:120204882..120208710,8	K562	blood:
11	chr11:120201225..120203829-chr11:120204191..120207304,3	K562	blood:
12	chr11:120194862..120197585-chr11:120203291..120207610,4	MCF-7	breast:

Variant related genes	Relation type
ARHGEF12	TF binding region
ENSG00000196914	Chromatin interaction
ENSG00000229382	Chromatin interaction
ENSG00000181264	Chromatin interaction
ENSG00000137709	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	chr11:120196800-120206200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:120198400-120206400	Weak transcription	Lung	lung
4	chr11:120198400-120206400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:120201200-120206400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:120201200-120206400	Weak transcription	Spleen	Spleen
7	chr11:120203600-120206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:120203600-120206400	Weak transcription	Esophagus	oesophagus
9	chr11:120205200-120206400	Weak transcription	Small Intestine	intestine
10	chr11:120205400-120206000	Active TSS	Fetal Lung	lung
11	chr11:120205600-120206000	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr11:120205600-120206000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:120205600-120206000	Active TSS	NH-A	brain
14	chr11:120205600-120206200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:120205600-120206200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:120205600-120206400	Flanking Active TSS	Osteobl	bone
17	chr11:120205600-120206600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:120205600-120206600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:120205600-120206600	Flanking Active TSS	HSMMtube	muscle
20	chr11:120205600-120206600	Flanking Active TSS	HUVEC	blood vessel
21	chr11:120205600-120206800	Active TSS	Fetal Brain Male	brain
22	chr11:120205600-120207000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:120205600-120207000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:120205600-120207200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:120205600-120208200	Active TSS	Stomach Smooth Muscle	stomach
26	chr11:120205600-120208600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:120205600-120208800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:120205600-120209000	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:120205600-120209000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:120205600-120209400	Active TSS	Brain Hippocampus Middle	brain
31	chr11:120205600-120209400	Active TSS	Fetal Intestine Large	intestine
32	chr11:120205600-120209600	Active TSS	Fetal Muscle Trunk	muscle
33	chr11:120205600-120210000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:120205600-120210000	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:120205600-120210000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:120205600-120210000	Active TSS	Colon Smooth Muscle	Colon
37	chr11:120205600-120210000	Active TSS	Hela-S3	cervix
38	chr11:120205600-120210200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:120205600-120210200	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr11:120205600-120210200	Active TSS	A549	lung
41	chr11:120205600-120210600	Active TSS	Brain Cingulate Gyrus	brain
42	chr11:120205600-120210800	Active TSS	Colonic Mucosa	Colon
43	chr11:120205600-120211600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:120205800-120206000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
45	chr11:120205800-120206000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr11:120205800-120206000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr11:120205800-120206000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:120205800-120206000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr11:120205800-120206000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:120205800-120206000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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