Variant report

Variant	rs201394498
Chromosome Location	chr2:168148718-168148719
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr2:168148448-168150272	IMR90	lung:	n/a	chr2:168149149-168149159 chr2:168149142-168149152
2	CTCF	chr2:168148680-168148830	HEEpiC	esophagus:	n/a	n/a
3	MXI1	chr2:168148220-168151717	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr2:168148700-168148850	HAc	cerebellar:	n/a	n/a
5	CHD1	chr2:168148674-168148976	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:168148637-168149991	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168144344..168146504-chr2:168147562..168149498,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228222	TF binding region

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	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv3412741	chr2:168148456-168151654	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:168144600-168148800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:168148400-168148800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:168148400-168148800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:168148400-168149000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:168148400-168149000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr2:168148400-168150600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:168148600-168148800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:168148600-168148800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr2:168148600-168148800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:168148600-168148800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr2:168148600-168148800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:168148600-168148800	Active TSS	Fetal Brain Male	brain
13	chr2:168148600-168148800	Flanking Active TSS	Fetal Brain Female	brain
14	chr2:168148600-168148800	Bivalent Enhancer	Fetal Heart	heart
15	chr2:168148600-168148800	Bivalent/Poised TSS	Fetal Kidney	kidney
16	chr2:168148600-168148800	Bivalent/Poised TSS	Fetal Lung	lung
17	chr2:168148600-168148800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:168148600-168148800	Flanking Bivalent TSS/Enh	A549	lung
19	chr2:168148600-168148800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
20	chr2:168148600-168148800	Bivalent Enhancer	Osteobl	bone
21	chr2:168148600-168149000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:168148600-168149000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:168148600-168149000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr2:168148600-168149000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr2:168148600-168149000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:168148600-168149000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:168148600-168149000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:168148600-168149000	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr2:168148600-168149000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr2:168148600-168149200	Active TSS	Brain Germinal Matrix	brain
31	chr2:168148600-168149600	Active TSS	Primary hematopoietic stem cells	blood
32	chr2:168148600-168149800	Active TSS	Muscle Satellite Cultured Cells	--
33	chr2:168148600-168149800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:168148600-168149800	Active TSS	Stomach Smooth Muscle	stomach
35	chr2:168148600-168149800	Bivalent/Poised TSS	HUVEC	blood vessel
36	chr2:168148600-168150000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:168148600-168150000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr2:168148600-168150200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr2:168148600-168150200	Active TSS	NH-A	brain
40	chr2:168148600-168150600	Active TSS	Right Atrium	heart
41	chr2:168148600-168150800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr2:168148600-168150800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:168148600-168150800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:168148600-168151600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:168148600-168151600	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr2:168148600-168151800	Active TSS	H1 Cell Line	embryonic stem cell
47	chr2:168148600-168151800	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr2:168148600-168151800	Active TSS	Brain Hippocampus Middle	brain
49	chr2:168148600-168151800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:168148600-168151800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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