Variant report

Variant	rs180690456
Chromosome Location	chr2:153191167-153191168
allele	A/G
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	MXI1	chr2:153191165-153194016	IMR90	lung:	n/a	n/a
2	NRF1	chr2:153191069-153193879	SK-N-SH	brain:	n/a	chr2:153193026-153193033
3	POLR2A	chr2:153191158-153192088	SK-N-MC	brain:	n/a	n/a
4	FOXA1	chr2:153191143-153191759	HepG2	liver:	n/a	n/a
5	MBD4	chr2:153191142-153191999	HepG2	liver:	n/a	n/a
6	TEAD4	chr2:153191120-153191686	HepG2	liver:	n/a	n/a
7	EGR1	chr2:153191147-153192066	HCT-116	colon:	n/a	chr2:153191924-153191934 chr2:153191603-153191616 chr2:153191997-153192007 chr2:153191621-153191635 chr2:153191603-153191616 chr2:153191578-153191602 chr2:153191604-153191618
8	MXI1	chr2:153190466-153194358	SK-N-SH	brain:	n/a	n/a
9	MAZ	chr2:153191164-153194151	IMR90	lung:	n/a	chr2:153193010-153193020 chr2:153191887-153191897 chr2:153191811-153191821 chr2:153192533-153192542 chr2:153191925-153191935
10	MAX	chr2:153191131-153194171	A549	lung:	n/a	chr2:153193010-153193020 chr2:153191887-153191897 chr2:153191811-153191821 chr2:153192533-153192542 chr2:153191925-153191935
11	MBD4	chr2:153191129-153191813	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153181849..153185587-chr2:153188964..153191697,3	MCF-7	breast:

Variant related genes	Relation type
FMNL2	TF binding region

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	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3375546	chr2:153190731-153193579	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 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	chr2:153187000-153191200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:153188800-153191200	Weak transcription	Right Atrium	heart
3	chr2:153190200-153191200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:153190600-153191200	Enhancers	Fetal Stomach	stomach
5	chr2:153190800-153191200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr2:153190800-153191200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:153190800-153191200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:153190800-153191200	Enhancers	Brain Anterior Caudate	brain
9	chr2:153190800-153191200	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:153190800-153191200	Enhancers	Fetal Brain Male	brain
11	chr2:153190800-153191200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:153190800-153191200	Enhancers	Hela-S3	cervix
13	chr2:153190800-153191200	Enhancers	NHDF-Ad	bronchial
14	chr2:153190800-153191400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:153190800-153191400	Flanking Bivalent TSS/Enh	HepG2	liver
16	chr2:153190800-153191600	Flanking Active TSS	NHEK	skin
17	chr2:153190800-153192800	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr2:153191000-153191200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:153191000-153191200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:153191000-153191200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:153191000-153191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:153191000-153191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:153191000-153191200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:153191000-153191200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:153191000-153191200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:153191000-153191200	Enhancers	Liver	Liver
27	chr2:153191000-153191200	Bivalent Enhancer	Brain Germinal Matrix	brain
28	chr2:153191000-153191200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr2:153191000-153191200	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr2:153191000-153191200	Enhancers	Fetal Intestine Large	intestine
31	chr2:153191000-153191200	Enhancers	Fetal Lung	lung
32	chr2:153191000-153191200	Flanking Active TSS	A549	lung
33	chr2:153191000-153191200	Enhancers	HSMMtube	muscle
34	chr2:153191000-153191200	Enhancers	HUVEC	blood vessel
35	chr2:153191000-153191200	Enhancers	NH-A	brain
36	chr2:153191000-153191200	Enhancers	Osteobl	bone
37	chr2:153191000-153191400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:153191000-153191400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr2:153191000-153191400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:153191000-153191400	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr2:153191000-153191400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr2:153191000-153191600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:153191000-153191600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
44	chr2:153191000-153192800	Active TSS	Colonic Mucosa	Colon
45	chr2:153191000-153193200	Active TSS	Adipose Nuclei	Adipose
46	chr2:153191000-153193200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr2:153191000-153193200	Active TSS	Stomach Smooth Muscle	stomach
48	chr2:153191000-153193400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:153191000-153193400	Active TSS	Colon Smooth Muscle	Colon
50	chr2:153191000-153193600	Active TSS	Duodenum Smooth Muscle	Duodenum

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