Variant report

Variant	rs534850149
Chromosome Location	chr11:47210648-47210649
allele	-/AC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr11:47210601-47211496	A549	lung:	n/a	n/a
2	FOXA2	chr11:47210555-47211455	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:47210644-47211641	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:47210612-47211365	A549	lung:	n/a	n/a
5	FOXA2	chr11:47210606-47211498	A549	lung:	n/a	n/a
6	CEBPB	chr11:47210572-47211493	MCF-7	breast:	n/a	n/a
7	TCF12	chr11:47210464-47211494	A549	lung:	n/a	n/a
8	EP300	chr11:47210624-47211426	T-47D	breast:	n/a	n/a
9	MAX	chr11:47210617-47211499	A549	lung:	n/a	n/a
10	CEBPB	chr11:47210624-47211464	A549	lung:	n/a	n/a
11	MYBL2	chr11:47210641-47211483	HepG2	liver:	n/a	n/a
12	GTF3C2	chr11:47210574-47211552	Hela-S3	cervix:	n/a	n/a
13	GATA3	chr11:47210619-47211498	MCF-7	breast:	n/a	chr11:47211081-47211092
14	CEBPB	chr11:47210647-47210819	K562	blood:	n/a	n/a
15	CEBPB	chr11:47210647-47211621	HepG2	liver:	n/a	n/a
16	TEAD4	chr11:47210594-47211562	HepG2	liver:	n/a	n/a
17	RCOR1	chr11:47210414-47211653	IMR90	lung:	n/a	n/a
18	GATA3	chr11:47210594-47211496	A549	lung:	n/a	chr11:47211081-47211092
19	GATA3	chr11:47210644-47211367	T-47D	breast:	n/a	chr11:47211081-47211092
20	CEBPB	chr11:47210636-47211651	A549	lung:	n/a	n/a
21	SP1	chr11:47210540-47211541	A549	lung:	n/a	n/a
22	POLR2A	chr11:47210635-47211381	HepG2	liver:	n/a	n/a
23	CEBPB	chr11:47210623-47211456	MCF-7	breast:	n/a	n/a
24	CEBPB	chr11:47210584-47211361	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr11:47210595-47211643	IMR90	lung:	n/a	n/a

No data

(count:10 , 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	chr11:47208035..47210761-chr11:47215071..47216625,2	K562	blood:
8	chr11:47209261..47211056-chr11:47214428..47216571,3	K562	blood:
9	chr11:47208178..47210711-chr11:47292129..47294410,2	K562	blood:
10	chr11:47209972..47212228-chr11:47292930..47294669,2	MCF-7	breast:

No data

Variant related genes	Relation type
PACSIN3	TF binding region
ENSG00000110514	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000165912	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:52 , 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	chr11:47209400-47210800	Weak transcription	HMEC	breast
8	chr11:47209400-47211000	Enhancers	Left Ventricle	heart
9	chr11:47209400-47211000	Weak transcription	Right Atrium	heart
10	chr11:47209400-47211400	Enhancers	Fetal Kidney	kidney
11	chr11:47209400-47211600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:47209400-47211600	Enhancers	Fetal Intestine Large	intestine
13	chr11:47209400-47211600	Enhancers	Fetal Intestine Small	intestine
14	chr11:47209400-47213800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:47209600-47210800	Weak transcription	Adipose Nuclei	Adipose
16	chr11:47209600-47211000	Enhancers	Fetal Stomach	stomach
17	chr11:47209600-47211200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr11:47209600-47211400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:47209600-47211400	Enhancers	Colon Smooth Muscle	Colon
20	chr11:47209600-47211600	Enhancers	Fetal Heart	heart
21	chr11:47209600-47213200	Weak transcription	Right Ventricle	heart
22	chr11:47209800-47210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:47209800-47210800	Enhancers	Lung	lung
24	chr11:47209800-47210800	Weak transcription	HSMMtube	muscle
25	chr11:47209800-47210800	Weak transcription	NH-A	brain
26	chr11:47209800-47211200	Enhancers	Fetal Muscle Trunk	muscle
27	chr11:47209800-47211400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:47209800-47214000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:47210000-47210800	Enhancers	HepG2	liver
30	chr11:47210000-47211200	Enhancers	Stomach Smooth Muscle	stomach
31	chr11:47210200-47210800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:47210200-47211400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:47210200-47211400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:47210200-47211400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:47210200-47214800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:47210200-47226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:47210400-47210800	Weak transcription	Fetal Lung	lung
38	chr11:47210400-47211000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:47210400-47211400	Enhancers	Rectal Smooth Muscle	rectum
40	chr11:47210400-47211400	Enhancers	NHEK	skin
41	chr11:47210400-47211400	Enhancers	Osteobl	bone
42	chr11:47210600-47210800	Enhancers	Pancreas	Pancrea
43	chr11:47210600-47210800	Enhancers	A549	lung
44	chr11:47210600-47211000	Enhancers	Psoas Muscle	Psoas
45	chr11:47210600-47211200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:47210600-47211400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:47210600-47211400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:47210600-47211400	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:47210600-47211400	Enhancers	NHLF	lung
50	chr11:47210600-47211600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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