Variant report

Variant	rs550871627
Chromosome Location	chr11:47210016-47210017
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 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	POLR2A	chr11:47209771-47210047	HepG2	liver:	n/a	n/a
7	EP300	chr11:47209326-47210279	SK-N-SH_RA	brain:	n/a	n/a
8	RAD21	chr11:47209760-47210050	SK-N-SH_RA	brain:	n/a	n/a
9	YY1	chr11:47209738-47210066	SK-N-SH_RA	brain:	n/a	n/a
10	RAD21	chr11:47209826-47210262	SK-N-SH_RA	brain:	n/a	n/a
11	TCF12	chr11:47209548-47210266	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr11:47209678-47210119	SK-N-SH	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47207085..47210178-chr11:47288214..47292056,4	MCF-7	breast:
2	chr11:47209362..47211566-chr11:47254961..47257621,2	MCF-7	breast:
3	chr11:47208508..47211092-chr11:47245771..47247789,2	MCF-7	breast:
4	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
5	chr11:47204023..47207155-chr11:47207314..47211225,4	K562	blood:
6	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
7	chr11:47205110..47208888-chr11:47209275..47211677,6	MCF-7	breast:
8	chr11:47208035..47210761-chr11:47215071..47216625,2	K562	blood:
9	chr11:47209261..47211056-chr11:47214428..47216571,3	K562	blood:
10	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:
11	chr11:47205341..47210329-chr11:47212095..47213798,5	MCF-7	breast:
12	chr11:47208178..47210711-chr11:47292129..47294410,2	K562	blood:
13	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
14	chr11:47209972..47212228-chr11:47292930..47294669,2	MCF-7	breast:

No data

Variant related genes	Relation type
PACSIN3	TF binding region
ENSG00000243802	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000025434	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47208200-47210200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr11:47208600-47211600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:47208800-47210400	Enhancers	Fetal Lung	lung
4	chr11:47209000-47211600	Enhancers	Liver	Liver
5	chr11:47209200-47210200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:47209200-47210200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr11:47209200-47210200	Enhancers	A549	lung
8	chr11:47209200-47211400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:47209200-47211400	Enhancers	NHDF-Ad	bronchial
10	chr11:47209200-47211800	Enhancers	Placenta	Placenta
11	chr11:47209200-47216000	Weak transcription	Esophagus	oesophagus
12	chr11:47209400-47210200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:47209400-47210200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr11:47209400-47210200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
15	chr11:47209400-47210600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:47209400-47210600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:47209400-47210600	Weak transcription	Psoas Muscle	Psoas
18	chr11:47209400-47210800	Weak transcription	HMEC	breast
19	chr11:47209400-47211000	Enhancers	Left Ventricle	heart
20	chr11:47209400-47211000	Weak transcription	Right Atrium	heart
21	chr11:47209400-47211400	Enhancers	Fetal Kidney	kidney
22	chr11:47209400-47211600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:47209400-47211600	Enhancers	Fetal Intestine Large	intestine
24	chr11:47209400-47211600	Enhancers	Fetal Intestine Small	intestine
25	chr11:47209400-47213800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:47209600-47210200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr11:47209600-47210200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:47209600-47210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:47209600-47210600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:47209600-47210600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:47209600-47210600	Weak transcription	Pancreas	Pancrea
32	chr11:47209600-47210800	Weak transcription	Adipose Nuclei	Adipose
33	chr11:47209600-47211000	Enhancers	Fetal Stomach	stomach
34	chr11:47209600-47211200	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr11:47209600-47211400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:47209600-47211400	Enhancers	Colon Smooth Muscle	Colon
37	chr11:47209600-47211600	Enhancers	Fetal Heart	heart
38	chr11:47209600-47213200	Weak transcription	Right Ventricle	heart
39	chr11:47209800-47210200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:47209800-47210600	Enhancers	Hela-S3	cervix
41	chr11:47209800-47210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:47209800-47210800	Enhancers	Lung	lung
43	chr11:47209800-47210800	Weak transcription	HSMMtube	muscle
44	chr11:47209800-47210800	Weak transcription	NH-A	brain
45	chr11:47209800-47211200	Enhancers	Fetal Muscle Trunk	muscle
46	chr11:47209800-47211400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:47209800-47214000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:47210000-47210200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:47210000-47210400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:47210000-47210400	Weak transcription	Rectal Smooth Muscle	rectum

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