Variant report

Variant	rs538695663
Chromosome Location	chr11:47209723-47209724
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:14)
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	EP300	chr11:47209327-47210221	SK-N-SH_RA	brain:	n/a	n/a
2	GATA2	chr11:47208472-47210224	SH-SY5Y	brain:	n/a	n/a
3	EP300	chr11:47207858-47210318	SK-N-SH	brain:	n/a	chr11:47208078-47208094 chr11:47208901-47208917
4	USF2	chr11:47209403-47209739	Hela-S3	cervix:	n/a	chr11:47209545-47209556
5	EP300	chr11:47209326-47210279	SK-N-SH_RA	brain:	n/a	n/a
6	TCF12	chr11:47209548-47210266	SK-N-SH	brain:	n/a	n/a
7	HEY1	chr11:47209670-47209933	HepG2	liver:	n/a	n/a
8	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	chr11:47205635..47209843-chr11:47268961..47271979,7	MCF-7	breast:
5	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
6	chr11:47204023..47207155-chr11:47207314..47211225,4	K562	blood:
7	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
8	chr11:47205110..47208888-chr11:47209275..47211677,6	MCF-7	breast:
9	chr11:47208035..47210761-chr11:47215071..47216625,2	K562	blood:
10	chr11:47209261..47211056-chr11:47214428..47216571,3	K562	blood:
11	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:
12	chr11:47205341..47210329-chr11:47212095..47213798,5	MCF-7	breast:
13	chr11:47208178..47210711-chr11:47292129..47294410,2	K562	blood:
14	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:

No data

Variant related genes	Relation type
PACSIN3	TF binding region
ENSG00000243802	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000134575	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47206000-47210000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr11:47208200-47209800	Flanking Active TSS	Hela-S3	cervix
3	chr11:47208200-47210200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr11:47208600-47209800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:47208600-47211600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:47208800-47210400	Enhancers	Fetal Lung	lung
7	chr11:47209000-47211600	Enhancers	Liver	Liver
8	chr11:47209200-47209800	Enhancers	GM12878-XiMat	blood
9	chr11:47209200-47209800	Flanking Active TSS	Osteobl	bone
10	chr11:47209200-47210000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:47209200-47210000	Flanking Active TSS	HepG2	liver
12	chr11:47209200-47210200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:47209200-47210200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:47209200-47210200	Enhancers	A549	lung
15	chr11:47209200-47211400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr11:47209200-47211400	Enhancers	NHDF-Ad	bronchial
17	chr11:47209200-47211800	Enhancers	Placenta	Placenta
18	chr11:47209200-47216000	Weak transcription	Esophagus	oesophagus
19	chr11:47209400-47209800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:47209400-47209800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:47209400-47209800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr11:47209400-47209800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
23	chr11:47209400-47209800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr11:47209400-47209800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:47209400-47209800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:47209400-47209800	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:47209400-47209800	Weak transcription	Lung	lung
28	chr11:47209400-47209800	Enhancers	HSMMtube	muscle
29	chr11:47209400-47209800	Enhancers	NH-A	brain
30	chr11:47209400-47210000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:47209400-47210000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:47209400-47210000	Enhancers	Rectal Smooth Muscle	rectum
33	chr11:47209400-47210200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:47209400-47210200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr11:47209400-47210200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
36	chr11:47209400-47210600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:47209400-47210600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:47209400-47210600	Weak transcription	Psoas Muscle	Psoas
39	chr11:47209400-47210800	Weak transcription	HMEC	breast
40	chr11:47209400-47211000	Enhancers	Left Ventricle	heart
41	chr11:47209400-47211000	Weak transcription	Right Atrium	heart
42	chr11:47209400-47211400	Enhancers	Fetal Kidney	kidney
43	chr11:47209400-47211600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:47209400-47211600	Enhancers	Fetal Intestine Large	intestine
45	chr11:47209400-47211600	Enhancers	Fetal Intestine Small	intestine
46	chr11:47209400-47213800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr11:47209600-47209800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
48	chr11:47209600-47209800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr11:47209600-47209800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr11:47209600-47209800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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