Variant report

Variant	rs541135246
Chromosome Location	chr2:185462168-185462169
allele	A/C
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	RAD21	chr2:185461247-185463866	SK-N-SH	brain:	n/a	chr2:185463244-185463258
2	RELA	chr2:185462043-185464668	GM12891	blood:	n/a	n/a
3	TEAD4	chr2:185461808-185462206	HepG2	liver:	n/a	chr2:185461931-185461940
4	POLR2A	chr2:185461631-185464960	Raji	blood:	n/a	n/a
5	MXI1	chr2:185461442-185464988	IMR90	lung:	n/a	n/a
6	POLR2A	chr2:185461406-185465047	HL-60	blood:	n/a	n/a
7	MXI1	chr2:185461351-185464665	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr2:185462013-185464616	HL-60	blood:	n/a	n/a
9	POLR2A	chr2:185461375-185465153	GM12891	blood:	n/a	n/a
10	POLR2A	chr2:185462080-185463795	H1-neurons	neurons:	n/a	n/a
11	GATA2	chr2:185461995-185464636	SH-SY5Y	brain:	n/a	chr2:185462807-185462815 chr2:185464562-185464570
12	TCF7L2	chr2:185461759-185462544	PANC-1	pancreas:	n/a	n/a
13	SP1	chr2:185462063-185462415	H1-hESC	embryonic stem cell:	n/a	chr2:185462241-185462255 chr2:185462246-185462255
14	MYC	chr2:185461458-185464935	NB4	blood:	n/a	chr2:185462936-185462945 chr2:185464199-185464209
15	MAX	chr2:185461515-185464880	NB4	blood:	n/a	chr2:185462936-185462945 chr2:185464199-185464209
16	STAT1	chr2:185462111-185462201	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:185461776-185464583	GM19099	blood:	n/a	n/a
18	POLR2A	chr2:185461736-185463826	IMR90	lung:	n/a	n/a
19	POLR2A	chr2:185461498-185464857	NB4	blood:	n/a	n/a
20	REST	chr2:185462114-185462911	HL-60	blood:	n/a	n/a
21	REST	chr2:185461925-185463950	H1-neurons	neurons:	n/a	chr2:185463245-185463263

Variant related genes	Relation type
ZNF804A	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875497	chr2:185134237-185474770	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875512	chr2:185300641-185474770	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532412	chr2:185347334-186108701	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1818452	chr2:185428946-185503154	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3437193	chr2:185461732-185464880	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185461200-185462600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
2	chr2:185461200-185462800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:185461200-185466200	Active TSS	NHLF	lung
4	chr2:185461400-185462600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr2:185461400-185462800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr2:185461400-185462800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:185461400-185464000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:185461400-185464000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:185461400-185466200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:185461600-185462200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:185461600-185462200	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr2:185461600-185462400	Bivalent Enhancer	HepG2	liver
13	chr2:185461600-185462600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr2:185461600-185463200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:185461600-185463800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:185461600-185463800	Active TSS	Primary monocytes fromperipheralblood	blood
17	chr2:185461600-185464000	Active TSS	Brain Angular Gyrus	brain
18	chr2:185461600-185464000	Active TSS	Brain Germinal Matrix	brain
19	chr2:185461600-185464000	Active TSS	Brain Substantia Nigra	brain
20	chr2:185461600-185464400	Active TSS	Brain Cingulate Gyrus	brain
21	chr2:185461600-185464600	Active TSS	Brain Anterior Caudate	brain
22	chr2:185461600-185464600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr2:185461600-185465200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:185461600-185466200	Active TSS	Fetal Brain Female	brain
25	chr2:185461800-185462200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:185461800-185462200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr2:185461800-185462200	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:185461800-185462200	Enhancers	Adipose Nuclei	Adipose
29	chr2:185461800-185462200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr2:185461800-185462200	Flanking Bivalent TSS/Enh	A549	lung
31	chr2:185461800-185462400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr2:185461800-185462400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:185461800-185462600	Bivalent/Poised TSS	Fetal Kidney	kidney
34	chr2:185461800-185462600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
35	chr2:185461800-185462600	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr2:185461800-185462600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
37	chr2:185461800-185462800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr2:185461800-185463000	Active TSS	Fetal Brain Male	brain
39	chr2:185461800-185463600	Active TSS	Ovary	ovary
40	chr2:185461800-185464000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:185461800-185464000	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr2:185461800-185464200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
43	chr2:185461800-185464400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr2:185461800-185464800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
45	chr2:185461800-185466000	Active TSS	Fetal Stomach	stomach
46	chr2:185462000-185462200	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr2:185462000-185462200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:185462000-185462200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:185462000-185462200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr2:185462000-185462200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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