Variant report

Variant	rs56187608
Chromosome Location	chr2:11906030-11906031
allele	C/T
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	chr2:11904265-11906727	SK-N-SH	brain:	n/a	chr2:11904815-11904829

Variant related genes	Relation type
MIR548S	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11886664	1.00[AMR][1000 genomes]
rs55736020	0.83[AMR][1000 genomes]
rs57779431	1.00[AMR][1000 genomes]
rs59101452	1.00[AMR][1000 genomes]
rs61594850	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745921	1.00[AMR][1000 genomes]
rs73915564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73917124	1.00[AMR][1000 genomes]
rs73917127	1.00[AMR][1000 genomes]

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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11888400-11916400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:11890400-11906400	Weak transcription	Fetal Brain Male	brain
3	chr2:11893800-11906400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:11895000-11906200	Weak transcription	HSMM	muscle
5	chr2:11895000-11907000	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:11895000-11918200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:11897600-11909000	Weak transcription	Psoas Muscle	Psoas
8	chr2:11899200-11911200	Weak transcription	Small Intestine	intestine
9	chr2:11900600-11908800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:11900600-11918000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:11900800-11912200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:11901200-11909000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:11901200-11915000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:11901600-11914200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:11901800-11914000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:11901800-11918600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:11902200-11906600	Weak transcription	Fetal Kidney	kidney
18	chr2:11902200-11913800	Strong transcription	NHLF	lung
19	chr2:11902800-11912200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:11902800-11912400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:11902800-11913800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:11903000-11908400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:11903000-11913600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:11903000-11914200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:11903000-11915000	Strong transcription	NHEK	skin
26	chr2:11903200-11906400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:11903200-11915000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:11903400-11907000	Strong transcription	Primary hematopoietic stem cells	blood
29	chr2:11903400-11914600	Strong transcription	Dnd41	blood
30	chr2:11903600-11906400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:11903600-11911600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:11903800-11908600	Strong transcription	HMEC	breast
33	chr2:11903800-11913800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:11903800-11914800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:11904000-11914600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:11904400-11906200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:11904400-11914800	Strong transcription	Primary B cells from cord blood	blood
38	chr2:11904400-11914800	Strong transcription	Primary T cells from cord blood	blood
39	chr2:11904600-11906600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:11904600-11907400	Strong transcription	Hela-S3	cervix
41	chr2:11904600-11908200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr2:11904600-11908600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr2:11904600-11909000	Strong transcription	Esophagus	oesophagus
44	chr2:11904600-11909200	Strong transcription	Fetal Brain Female	brain
45	chr2:11904600-11909200	Strong transcription	Fetal Intestine Small	intestine
46	chr2:11904800-11908400	Strong transcription	A549	lung
47	chr2:11905000-11906200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:11905000-11908200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:11905000-11908400	Strong transcription	GM12878-XiMat	blood
50	chr2:11905000-11908600	Strong transcription	HepG2	liver

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