Variant report

Variant	rs368470737
Chromosome Location	chr2:37550261-37550262
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	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	MXI1	chr2:37547850-37553154	SK-N-SH	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: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37484600-37550400	Weak transcription	Right Ventricle	heart
2	chr2:37509000-37550800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:37511000-37550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:37520400-37550400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:37530600-37550400	Weak transcription	Thymus	Thymus
6	chr2:37533200-37550400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:37534000-37550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:37534400-37550400	Weak transcription	Lung	lung
9	chr2:37534400-37550600	Weak transcription	Left Ventricle	heart
10	chr2:37537000-37550400	Weak transcription	HSMMtube	muscle
11	chr2:37542000-37550400	Weak transcription	Colonic Mucosa	Colon
12	chr2:37542400-37550800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:37542800-37550800	Weak transcription	Gastric	stomach
14	chr2:37543000-37550400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:37543600-37550400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:37543800-37550600	Weak transcription	Fetal Brain Male	brain
17	chr2:37545800-37550400	Weak transcription	Ovary	ovary
18	chr2:37546000-37550400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:37546000-37551000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:37546400-37550400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:37548200-37550400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:37548200-37550400	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:37548200-37550600	Enhancers	Primary B cells from cord blood	blood
24	chr2:37548200-37550800	Weak transcription	Stomach Mucosa	stomach
25	chr2:37548400-37550400	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:37548400-37550400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:37548400-37550400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:37548400-37550400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:37548400-37550400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:37548400-37550400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:37548400-37550600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr2:37548400-37551000	Flanking Active TSS	Dnd41	blood
33	chr2:37548600-37550400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:37548600-37550400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:37548600-37550400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:37548600-37550400	Enhancers	Liver	Liver
37	chr2:37548600-37550400	Enhancers	Brain Germinal Matrix	brain
38	chr2:37548600-37550400	Enhancers	Fetal Heart	heart
39	chr2:37548600-37550400	Enhancers	Fetal Lung	lung
40	chr2:37548600-37550600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:37548800-37550400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:37548800-37550800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:37548800-37554000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:37549000-37550400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:37549000-37550400	Weak transcription	Fetal Brain Female	brain
46	chr2:37549000-37551000	Weak transcription	Spleen	Spleen
47	chr2:37549200-37550400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:37549200-37550600	Enhancers	Fetal Thymus	thymus
49	chr2:37549400-37550400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:37549400-37550400	Enhancers	Rectal Mucosa Donor 31	rectum

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