Variant report

Variant	rs535520233
Chromosome Location	chr2:55172640-55172641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:55172594-55173269	IMR90	lung:	n/a	n/a
2	EP300	chr2:55172633-55172816	GM12878	blood:	n/a	n/a
3	MXI1	chr2:55172634-55172669	GM12878	blood:	n/a	n/a
4	RUNX3	chr2:55172512-55172930	GM12878	blood:	n/a	n/a
5	MAZ	chr2:55172531-55172666	GM12878	blood:	n/a	n/a
6	RUNX3	chr2:55172516-55172975	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:55172574-55172896	GM12878	blood:	n/a	n/a
8	ATF2	chr2:55172506-55172897	GM12878	blood:	n/a	n/a
9	STAT3	chr2:55172578-55172681	MCF10A-Er-Src	breast:	n/a	n/a
10	EBF1	chr2:55172604-55172806	GM12878	blood:	n/a	n/a
11	FOS	chr2:55172592-55172708	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55164941..55167851-chr2:55169428..55172697,4	K562	blood:
2	chr2:55171297..55173305-chr2:55180645..55183398,2	K562	blood:
3	chr2:39442463..39443026-chr2:55172640..55173316,2	MCF-7	breast:
4	chr15:90568357..90570526-chr2:55172089..55173609,2	MCF-7	breast:

No data

Variant related genes	Relation type
EML6	TF binding region
ENSG00000214595	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv582029	chr2:55159043-55204498	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv3393792	chr2:55171448-55173496	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3355243	chr2:55171898-55172946	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55166200-55172800	Weak transcription	Gastric	stomach
2	chr2:55168800-55193400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:55169000-55172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:55169800-55172800	Weak transcription	Esophagus	oesophagus
5	chr2:55170000-55172800	Weak transcription	Lung	lung
6	chr2:55170400-55190400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:55170600-55172800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:55172200-55174200	Enhancers	Brain Hippocampus Middle	brain
9	chr2:55172400-55172800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:55172400-55173800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:55172400-55173800	Enhancers	HMEC	breast
12	chr2:55172400-55173800	Enhancers	NHLF	lung
13	chr2:55172400-55174000	Enhancers	NHDF-Ad	bronchial
14	chr2:55172400-55174200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:55172400-55174400	Enhancers	Brain Angular Gyrus	brain
16	chr2:55172400-55175400	Enhancers	Fetal Brain Male	brain
17	chr2:55172400-55175600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:55172400-55176000	Enhancers	Fetal Muscle Leg	muscle
19	chr2:55172600-55172800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:55172600-55172800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:55172600-55172800	Active TSS	Adipose Nuclei	Adipose
22	chr2:55172600-55172800	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr2:55172600-55172800	Flanking Active TSS	HepG2	liver
24	chr2:55172600-55172800	Enhancers	HSMM	muscle
25	chr2:55172600-55173000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr2:55172600-55173000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:55172600-55173000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr2:55172600-55173000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:55172600-55173000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:55172600-55173000	Enhancers	Brain Substantia Nigra	brain
31	chr2:55172600-55173000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:55172600-55173000	Enhancers	Hela-S3	cervix
33	chr2:55172600-55173000	Enhancers	K562	blood
34	chr2:55172600-55173200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:55172600-55173200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:55172600-55173200	Enhancers	Right Atrium	heart
37	chr2:55172600-55173400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:55172600-55173400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:55172600-55173600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:55172600-55173600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:55172600-55173600	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:55172600-55173600	Enhancers	Fetal Muscle Trunk	muscle
43	chr2:55172600-55173600	Enhancers	Ovary	ovary
44	chr2:55172600-55173600	Enhancers	Pancreas	Pancrea
45	chr2:55172600-55173600	Enhancers	GM12878-XiMat	blood
46	chr2:55172600-55173600	Enhancers	NHEK	skin
47	chr2:55172600-55173800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:55172600-55173800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:55172600-55173800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:55172600-55173800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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