Variant report

Variant	rs557291313
Chromosome Location	chr2:37550766-37550767
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	EP300	chr2:37548191-37553289	SK-N-SH	brain:	n/a	chr2:37553241-37553251 chr2:37551667-37551676 chr2:37551721-37551730 chr2:37552888-37552902 chr2:37552886-37552900 chr2:37548375-37548385 chr2:37552046-37552062 chr2:37551718-37551727 chr2:37551670-37551686 chr2:37551556-37551565 chr2:37549996-37550004 chr2:37551763-37551772 chr2:37552050-37552059 chr2:37552050-37552066 chr2:37551559-37551568 chr2:37551670-37551679 chr2:37551760-37551769 chr2:37551766-37551775
2	POLR2A	chr2:37550735-37552767	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:37550759-37551567	GM12892	blood:	n/a	n/a
4	HCFC1	chr2:37550716-37554093	Hela-S3	cervix:	n/a	n/a
5	PBX3	chr2:37550737-37551286	SK-N-SH	brain:	n/a	chr2:37551029-37551040
6	PBX3	chr2:37550664-37551333	SK-N-SH	brain:	n/a	chr2:37551029-37551040
7	MAX	chr2:37550758-37551241	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr2:37547850-37553154	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr2:37550729-37552179	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:37550732-37551670	GM12892	blood:	n/a	n/a
11	BRCA1	chr2:37550729-37551313	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr2:37550446-37552844	IMR90	lung:	n/a	chr2:37552229-37552236
13	SIN3A	chr2:37550628-37552914	H1-hESC	embryonic stem cell:	n/a	chr2:37551634-37551645 chr2:37552028-37552037 chr2:37551573-37551584 chr2:37552043-37552056
14	SIN3AK20	chr2:37550559-37551582	SK-N-SH	brain:	n/a	n/a
15	MYC	chr2:37550656-37551277	K562	blood:	n/a	n/a
16	GATA2	chr2:37550579-37551353	HUVEC	blood vessel:	n/a	chr2:37550984-37550994
17	GATA3	chr2:37550596-37551076	SH-SY5Y	brain:	n/a	chr2:37550984-37550994
18	RCOR1	chr2:37550589-37552573	K562	blood:	n/a	n/a
19	POLR2A	chr2:37550701-37553263	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37453426..37455818-chr2:37549364..37551378,2	K562	blood:
2	chr2:37466663..37469374-chr2:37548966..37550827,2	K562	blood:

Variant related genes	Relation type
ENSG00000232028	TF binding region
ENSG00000003509	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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	esv3360299	chr2:37550473-37553321	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37509000-37550800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:37511000-37550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:37542400-37550800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:37542800-37550800	Weak transcription	Gastric	stomach
5	chr2:37546000-37551000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:37548200-37550800	Weak transcription	Stomach Mucosa	stomach
7	chr2:37548400-37551000	Flanking Active TSS	Dnd41	blood
8	chr2:37548800-37550800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:37548800-37554000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:37549000-37551000	Weak transcription	Spleen	Spleen
11	chr2:37549400-37552200	Active TSS	GM12878-XiMat	blood
12	chr2:37549400-37554000	Active TSS	Right Atrium	heart
13	chr2:37549600-37550800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr2:37549600-37551000	Flanking Active TSS	HUVEC	blood vessel
15	chr2:37549600-37551200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr2:37549600-37551200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr2:37549600-37551400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:37549600-37552000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:37549600-37552200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:37549600-37552600	Active TSS	Colon Smooth Muscle	Colon
21	chr2:37549800-37551000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr2:37549800-37552000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr2:37549800-37552200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:37549800-37552600	Active TSS	Brain Cingulate Gyrus	brain
25	chr2:37549800-37552600	Active TSS	NHDF-Ad	bronchial
26	chr2:37549800-37552800	Active TSS	Aorta	Aorta
27	chr2:37549800-37552800	Active TSS	NH-A	brain
28	chr2:37549800-37553800	Active TSS	Duodenum Mucosa	Duodenum
29	chr2:37549800-37553800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr2:37549800-37554200	Active TSS	Stomach Smooth Muscle	stomach
31	chr2:37549800-37554200	Active TSS	NHLF	lung
32	chr2:37550000-37550800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:37550000-37550800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr2:37550000-37551000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:37550000-37551200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr2:37550000-37551200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr2:37550000-37552600	Active TSS	NHEK	skin
38	chr2:37550000-37552800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:37550000-37552800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:37550000-37554400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:37550200-37551200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:37550200-37551200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr2:37550200-37551400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:37550200-37552200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr2:37550200-37552600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:37550200-37553800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:37550200-37553800	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr2:37550400-37550800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:37550400-37550800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr2:37550400-37550800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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