Variant report

Variant	rs572052825
Chromosome Location	chr11:47661246-47661247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47661207-47661387	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47660831..47663188-chr11:47962801..47965480,2	K562	blood:
2	chr11:47660743..47662346-chr11:47776631..47779336,2	MCF-7	breast:
3	chr11:47648151..47655137-chr11:47656071..47661932,11	K562	blood:
4	chr11:47660129..47661788-chr11:47662493..47664105,2	MCF-7	breast:
5	chr11:47599811..47601701-chr11:47661212..47663329,2	K562	blood:
6	chr11:47586161..47588765-chr11:47660200..47662976,2	MCF-7	breast:

No data

Variant related genes	Relation type
MTCH2	TF binding region
ENSG00000110536	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000123444	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	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv3424537	chr11:47660545-47663980	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47636600-47661400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47638000-47661400	Strong transcription	Fetal Thymus	thymus
4	chr11:47638000-47661800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:47638200-47661600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:47638200-47661600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:47638800-47661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:47639000-47661400	Strong transcription	Fetal Muscle Leg	muscle
9	chr11:47639000-47662600	Weak transcription	Stomach Mucosa	stomach
10	chr11:47640600-47661400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:47640800-47661400	Strong transcription	Fetal Intestine Small	intestine
12	chr11:47640800-47661400	Strong transcription	Fetal Stomach	stomach
13	chr11:47641800-47661600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:47642000-47661400	Strong transcription	Placenta	Placenta
15	chr11:47642000-47661800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:47644000-47661600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:47646800-47662600	Weak transcription	Aorta	Aorta
18	chr11:47648200-47662800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:47648200-47663200	Weak transcription	Gastric	stomach
20	chr11:47648400-47662800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:47649200-47662600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:47653400-47661600	Weak transcription	Pancreas	Pancrea
23	chr11:47653400-47662600	Weak transcription	Psoas Muscle	Psoas
24	chr11:47653600-47662200	Weak transcription	Fetal Brain Male	brain
25	chr11:47653600-47662200	Weak transcription	Fetal Heart	heart
26	chr11:47653800-47662400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:47654400-47661400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:47655200-47661600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:47655400-47661600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:47655600-47661600	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr11:47656000-47662600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:47656200-47662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:47656800-47662800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:47657000-47662400	Weak transcription	Spleen	Spleen
35	chr11:47657000-47662600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:47657000-47663200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:47657000-47663200	Weak transcription	Esophagus	oesophagus
38	chr11:47657200-47662000	Weak transcription	Fetal Brain Female	brain
39	chr11:47657200-47662200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:47657200-47662400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:47657200-47662400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:47657200-47662800	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:47657200-47663400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:47657600-47661400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:47657800-47662400	Weak transcription	Right Ventricle	heart
46	chr11:47658600-47662000	Weak transcription	Small Intestine	intestine
47	chr11:47658600-47662600	Weak transcription	Colonic Mucosa	Colon
48	chr11:47658800-47661400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:47658800-47663200	Weak transcription	Lung	lung
50	chr11:47659400-47661400	Strong transcription	HepG2	liver

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