Variant report

Variant	rs13026878
Chromosome Location	chr2:231031467-231031468
allele	C/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	CEBPB	chr2:231031330-231031530	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000225963	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10210254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1060759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1137604	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1137605	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12328528	0.91[ASN][1000 genomes]
rs13026113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731723	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3731725	0.91[ASN][1000 genomes]
rs3943889	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4283410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4381771	0.91[ASN][1000 genomes]
rs4624369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4973278	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4973279	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4973280	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4973281	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4973282	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4973283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6436917	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs722555	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7583955	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs957683	0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231023600-231032200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:231024800-231036400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:231025000-231031600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:231025000-231032000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:231025000-231032000	Weak transcription	Left Ventricle	heart
6	chr2:231025000-231032000	Weak transcription	Ovary	ovary
7	chr2:231025000-231032200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:231025000-231032200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:231025000-231032200	Weak transcription	Lung	lung
10	chr2:231025000-231033800	Weak transcription	Small Intestine	intestine
11	chr2:231025000-231034200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:231025000-231034400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:231025000-231034400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:231025000-231034400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:231025000-231034400	Weak transcription	Pancreas	Pancrea
16	chr2:231025000-231034600	Weak transcription	Brain Anterior Caudate	brain
17	chr2:231025000-231034800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:231025000-231035000	Weak transcription	Placenta	Placenta
19	chr2:231025000-231035400	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:231025000-231036200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:231025000-231036200	Weak transcription	Fetal Intestine Large	intestine
22	chr2:231025000-231036600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:231025000-231036600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:231025000-231036600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:231025000-231036600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:231025000-231040000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:231025400-231035000	Weak transcription	Right Ventricle	heart
28	chr2:231025600-231032000	Weak transcription	Spleen	Spleen
29	chr2:231026000-231032200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:231026200-231036200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:231026400-231036200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:231026400-231041600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:231026400-231041800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:231026600-231032000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:231026600-231035000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:231026600-231037000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:231026600-231040200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:231026600-231041400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:231027800-231032000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:231027800-231032200	Weak transcription	Aorta	Aorta
41	chr2:231028200-231036600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:231028400-231031600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:231028400-231032200	Weak transcription	Dnd41	blood
44	chr2:231028400-231034400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:231028400-231034400	Strong transcription	Primary T cells from cord blood	blood
46	chr2:231028400-231035000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:231028400-231067000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:231028600-231039600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:231028600-231051200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:231028800-231034000	Weak transcription	Colonic Mucosa	Colon

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