Variant report

Variant	rs567312210
Chromosome Location	chr11:47210219-47210220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47209945-47210241	HepG2	liver:	n/a	n/a
2	EP300	chr11:47209327-47210221	SK-N-SH_RA	brain:	n/a	n/a
3	GATA2	chr11:47208472-47210224	SH-SY5Y	brain:	n/a	n/a
4	EP300	chr11:47207858-47210318	SK-N-SH	brain:	n/a	chr11:47208078-47208094 chr11:47208901-47208917
5	REST	chr11:47209762-47210220	SK-N-SH	brain:	n/a	n/a
6	EP300	chr11:47209326-47210279	SK-N-SH_RA	brain:	n/a	n/a
7	RAD21	chr11:47209826-47210262	SK-N-SH_RA	brain:	n/a	n/a
8	TCF12	chr11:47209548-47210266	SK-N-SH	brain:	n/a	n/a

No data

(count:11 , 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	chr11:47205341..47210329-chr11:47212095..47213798,5	MCF-7	breast:
10	chr11:47208178..47210711-chr11:47292129..47294410,2	K562	blood:
11	chr11:47209972..47212228-chr11:47292930..47294669,2	MCF-7	breast:

No data

Variant related genes	Relation type
PACSIN3	TF binding region
ENSG00000110514	Chromatin interaction
ENSG00000243802	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000256746	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: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	chr11:47208800-47210400	Enhancers	Fetal Lung	lung
3	chr11:47209000-47211600	Enhancers	Liver	Liver
4	chr11:47209200-47211400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:47209200-47211400	Enhancers	NHDF-Ad	bronchial
6	chr11:47209200-47211800	Enhancers	Placenta	Placenta
7	chr11:47209200-47216000	Weak transcription	Esophagus	oesophagus
8	chr11:47209400-47210600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:47209400-47210600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:47209400-47210600	Weak transcription	Psoas Muscle	Psoas
11	chr11:47209400-47210800	Weak transcription	HMEC	breast
12	chr11:47209400-47211000	Enhancers	Left Ventricle	heart
13	chr11:47209400-47211000	Weak transcription	Right Atrium	heart
14	chr11:47209400-47211400	Enhancers	Fetal Kidney	kidney
15	chr11:47209400-47211600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:47209400-47211600	Enhancers	Fetal Intestine Large	intestine
17	chr11:47209400-47211600	Enhancers	Fetal Intestine Small	intestine
18	chr11:47209400-47213800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:47209600-47210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:47209600-47210600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:47209600-47210600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:47209600-47210600	Weak transcription	Pancreas	Pancrea
23	chr11:47209600-47210800	Weak transcription	Adipose Nuclei	Adipose
24	chr11:47209600-47211000	Enhancers	Fetal Stomach	stomach
25	chr11:47209600-47211200	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr11:47209600-47211400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:47209600-47211400	Enhancers	Colon Smooth Muscle	Colon
28	chr11:47209600-47211600	Enhancers	Fetal Heart	heart
29	chr11:47209600-47213200	Weak transcription	Right Ventricle	heart
30	chr11:47209800-47210600	Enhancers	Hela-S3	cervix
31	chr11:47209800-47210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:47209800-47210800	Enhancers	Lung	lung
33	chr11:47209800-47210800	Weak transcription	HSMMtube	muscle
34	chr11:47209800-47210800	Weak transcription	NH-A	brain
35	chr11:47209800-47211200	Enhancers	Fetal Muscle Trunk	muscle
36	chr11:47209800-47211400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:47209800-47214000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:47210000-47210400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:47210000-47210400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:47210000-47210400	Weak transcription	NHEK	skin
41	chr11:47210000-47210400	Weak transcription	Osteobl	bone
42	chr11:47210000-47210800	Enhancers	HepG2	liver
43	chr11:47210000-47211200	Enhancers	Stomach Smooth Muscle	stomach
44	chr11:47210200-47210600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:47210200-47210600	Weak transcription	A549	lung
46	chr11:47210200-47210800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:47210200-47211400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr11:47210200-47211400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:47210200-47211400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr11:47210200-47214800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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