Variant report

Variant	rs565097022
Chromosome Location	chr11:47210913-47210914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:144 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr11:47210800-47211416	SK-N-SH	brain:	n/a	n/a
2	SP1	chr11:47210601-47211496	A549	lung:	n/a	n/a
3	FOXA2	chr11:47210555-47211455	HepG2	liver:	n/a	n/a
4	NFIC	chr11:47210725-47211334	HepG2	liver:	n/a	n/a
5	CHD2	chr11:47210847-47211248	Hela-S3	cervix:	n/a	n/a
6	USF1	chr11:47210779-47211437	A549	lung:	n/a	chr11:47211147-47211158
7	TFAP2C	chr11:47210858-47211401	Hela-S3	cervix:	n/a	chr11:47211189-47211204 chr11:47211172-47211187
8	CEBPB	chr11:47210644-47211641	HepG2	liver:	n/a	n/a
9	CEBPB	chr11:47210612-47211365	A549	lung:	n/a	n/a
10	FOXA1	chr11:47210769-47211411	HepG2	liver:	n/a	n/a
11	MYC	chr11:47210789-47211346	MCF10A-Er-Src	breast:	n/a	n/a
12	BCL3	chr11:47210745-47211490	A549	lung:	n/a	n/a
13	BRCA1	chr11:47210899-47211190	HepG2	liver:	n/a	n/a
14	HNF4A	chr11:47210782-47211272	HepG2	liver:	n/a	chr11:47211011-47211026 chr11:47211026-47211041
15	POLR2A	chr11:47210817-47211220	SK-N-SH	brain:	n/a	n/a
16	FOS	chr11:47210795-47211351	MCF10A-Er-Src	breast:	n/a	n/a
17	FOXA1	chr11:47210747-47211408	A549	lung:	n/a	n/a
18	FOXA1	chr11:47210687-47211505	HepG2	liver:	n/a	n/a
19	FOXA2	chr11:47210606-47211498	A549	lung:	n/a	n/a
20	FOS	chr11:47210866-47211325	MCF10A-Er-Src	breast:	n/a	n/a
21	CEBPB	chr11:47210572-47211493	MCF-7	breast:	n/a	n/a
22	USF1	chr11:47210902-47211394	A549	lung:	n/a	chr11:47211147-47211158
23	USF1	chr11:47210811-47211466	HCT-116	colon:	n/a	chr11:47211147-47211158
24	NR3C1	chr11:47210661-47211460	A549	lung:	n/a	n/a
25	MYBL2	chr11:47210665-47211594	HepG2	liver:	n/a	n/a
26	EP300	chr11:47210801-47211328	HepG2	liver:	n/a	n/a
27	GTF2F1	chr11:47210755-47211330	Hela-S3	cervix:	n/a	n/a
28	MXI1	chr11:47210691-47211363	HepG2	liver:	n/a	n/a
29	TCF12	chr11:47210784-47211410	A549	lung:	n/a	n/a
30	MAFK	chr11:47210813-47211355	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr11:47210894-47211268	HepG2	liver:	n/a	n/a
32	ZNF217	chr11:47210907-47211302	MCF-7	breast:	n/a	n/a
33	SMC3	chr11:47210801-47211349	Hela-S3	cervix:	n/a	n/a
34	JUND	chr11:47210888-47211304	A549	lung:	n/a	n/a
35	JUND	chr11:47210823-47211389	HepG2	liver:	n/a	n/a
36	REST	chr11:47210863-47211175	HepG2	liver:	n/a	n/a
37	MYC	chr11:47210843-47211337	Hela-S3	cervix:	n/a	n/a
38	STAT3	chr11:47210723-47211298	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr11:47210723-47211340	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:47210823-47211191	MCF10A-Er-Src	breast:	n/a	n/a
41	GATA3	chr11:47210656-47211511	MCF-7	breast:	n/a	chr11:47211081-47211092
42	MYC	chr11:47210883-47211308	MCF10A-Er-Src	breast:	n/a	n/a
43	TCF12	chr11:47210464-47211494	A549	lung:	n/a	n/a
44	NR2F2	chr11:47210741-47211522	MCF-7	breast:	n/a	n/a
45	TBP	chr11:47210754-47211339	HepG2	liver:	n/a	n/a
46	USF1	chr11:47210822-47211414	A549	lung:	n/a	chr11:47211147-47211158
47	REST	chr11:47210713-47211439	A549	lung:	n/a	n/a
48	EP300	chr11:47210709-47211469	A549	lung:	n/a	n/a
49	EP300	chr11:47210680-47211351	HepG2	liver:	n/a	n/a
50	FOS	chr11:47210763-47211368	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47209362..47211566-chr11:47254961..47257621,2	MCF-7	breast:
2	chr11:47208508..47211092-chr11:47245771..47247789,2	MCF-7	breast:
3	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
4	chr11:47204023..47207155-chr11:47207314..47211225,4	K562	blood:
5	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
6	chr11:47205110..47208888-chr11:47209275..47211677,6	MCF-7	breast:
7	chr11:47210760..47211699-chr11:47264854..47265597,2	MCF-7	breast:
8	chr11:47209261..47211056-chr11:47214428..47216571,3	K562	blood:
9	chr11:47209972..47212228-chr11:47292930..47294669,2	MCF-7	breast:

No data

Variant related genes	Relation type
PACSIN3	TF binding region
ENSG00000110514	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000256746	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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv897324	chr11:47193566-47212032	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv975171	chr11:47209667-47215620	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47208600-47211600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:47209000-47211600	Enhancers	Liver	Liver
3	chr11:47209200-47211400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:47209200-47211400	Enhancers	NHDF-Ad	bronchial
5	chr11:47209200-47211800	Enhancers	Placenta	Placenta
6	chr11:47209200-47216000	Weak transcription	Esophagus	oesophagus
7	chr11:47209400-47211000	Enhancers	Left Ventricle	heart
8	chr11:47209400-47211000	Weak transcription	Right Atrium	heart
9	chr11:47209400-47211400	Enhancers	Fetal Kidney	kidney
10	chr11:47209400-47211600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:47209400-47211600	Enhancers	Fetal Intestine Large	intestine
12	chr11:47209400-47211600	Enhancers	Fetal Intestine Small	intestine
13	chr11:47209400-47213800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:47209600-47211000	Enhancers	Fetal Stomach	stomach
15	chr11:47209600-47211200	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr11:47209600-47211400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:47209600-47211400	Enhancers	Colon Smooth Muscle	Colon
18	chr11:47209600-47211600	Enhancers	Fetal Heart	heart
19	chr11:47209600-47213200	Weak transcription	Right Ventricle	heart
20	chr11:47209800-47211200	Enhancers	Fetal Muscle Trunk	muscle
21	chr11:47209800-47211400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:47209800-47214000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:47210000-47211200	Enhancers	Stomach Smooth Muscle	stomach
24	chr11:47210200-47211400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:47210200-47211400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:47210200-47211400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr11:47210200-47214800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:47210200-47226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:47210400-47211000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:47210400-47211400	Enhancers	Rectal Smooth Muscle	rectum
31	chr11:47210400-47211400	Enhancers	NHEK	skin
32	chr11:47210400-47211400	Enhancers	Osteobl	bone
33	chr11:47210600-47211000	Enhancers	Psoas Muscle	Psoas
34	chr11:47210600-47211200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:47210600-47211400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:47210600-47211400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:47210600-47211400	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:47210600-47211400	Enhancers	NHLF	lung
39	chr11:47210600-47211600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:47210600-47211600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:47210600-47211600	Flanking Active TSS	Hela-S3	cervix
42	chr11:47210800-47211200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr11:47210800-47211200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr11:47210800-47211200	Enhancers	HSMMtube	muscle
45	chr11:47210800-47211400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:47210800-47211400	Enhancers	Adipose Nuclei	Adipose
47	chr11:47210800-47211400	Enhancers	Fetal Lung	lung
48	chr11:47210800-47211400	Flanking Active TSS	A549	lung
49	chr11:47210800-47211400	Enhancers	HMEC	breast
50	chr11:47210800-47211600	Flanking Active TSS	HepG2	liver

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