Variant report

Variant	rs6744426
Chromosome Location	chr2:55650572-55650573
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	chr2:55650465-55650742	A549	lung:	n/a	chr2:55650607-55650618
2	CEBPB	chr2:55650548-55650707	K562	blood:	n/a	chr2:55650607-55650618
3	CEBPB	chr2:55650555-55650657	H1-hESC	embryonic stem cell:	n/a	chr2:55650607-55650618
4	CEBPB	chr2:55650469-55650768	Hela-S3	cervix:	n/a	chr2:55650607-55650618
5	CEBPB	chr2:55650456-55650787	HepG2	liver:	n/a	chr2:55650607-55650618
6	CEBPB	chr2:55650516-55650771	IMR90	lung:	n/a	chr2:55650607-55650618

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55644949..55647772-chr2:55649501..55651559,3	K562	blood:

Variant related genes	Relation type
CCDC88A	TF binding region
ENSG00000115355	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10182704	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10184756	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10454144	0.85[EUR][1000 genomes]
rs11125565	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11125566	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11125572	0.99[ASN][1000 genomes]
rs11695152	0.83[AFR][1000 genomes]
rs12612806	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12617891	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12618216	0.86[ASN][1000 genomes]
rs12618795	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12623954	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12713297	0.93[ASN][1000 genomes]
rs13416912	0.81[EUR][1000 genomes]
rs1454415	0.92[ASN][1000 genomes]
rs1454419	0.94[ASN][1000 genomes]
rs1454420	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1454423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1454424	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1545554	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1902056	0.90[EUR][1000 genomes]
rs1902057	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1902058	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1902061	0.96[ASN][1000 genomes]
rs1902062	0.89[ASN][1000 genomes]
rs2045132	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2045133	0.90[EUR][1000 genomes]
rs2045134	0.90[ASN][1000 genomes]
rs2045135	0.92[ASN][1000 genomes]
rs2045136	0.85[ASN][1000 genomes]
rs2123983	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2219130	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2576688	0.87[EUR][1000 genomes]
rs2576703	0.87[EUR][1000 genomes]
rs2589057	0.87[EUR][1000 genomes]
rs2589068	0.87[EUR][1000 genomes]
rs2589069	0.87[EUR][1000 genomes]
rs2589070	0.87[EUR][1000 genomes]
rs2589078	0.87[EUR][1000 genomes]
rs2589079	0.87[EUR][1000 genomes]
rs2589104	0.87[EUR][1000 genomes]
rs2864831	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2864832	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2867173	0.87[EUR][1000 genomes]
rs2867178	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2867179	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2867194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2902857	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2903507	0.90[EUR][1000 genomes]
rs2903509	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2903514	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2917777	0.87[EUR][1000 genomes]
rs2920970	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2966466	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3099080	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3099081	0.87[EUR][1000 genomes]
rs3099083	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3111408	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3111409	0.92[EUR][1000 genomes]
rs3748943	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3762511	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3974263	0.87[EUR][1000 genomes]
rs4233960	0.87[EUR][1000 genomes]
rs4233961	0.90[EUR][1000 genomes]
rs4277563	0.92[ASN][1000 genomes]
rs4481025	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4535081	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4672032	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4672033	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4672036	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4672037	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4672038	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4672040	0.92[ASN][1000 genomes]
rs4672041	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4672043	0.99[ASN][1000 genomes]
rs4672044	0.99[ASN][1000 genomes]
rs59634508	0.87[EUR][1000 genomes]
rs61157332	0.87[EUR][1000 genomes]
rs6545489	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6545490	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6545491	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6545492	0.92[ASN][1000 genomes]
rs6709204	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6710192	0.90[EUR][1000 genomes]
rs6718031	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6718909	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6720698	0.91[ASN][1000 genomes]
rs6721593	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6724840	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6725968	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6729490	0.81[AFR][1000 genomes]
rs6732633	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6732759	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6733814	0.92[ASN][1000 genomes]
rs6748979	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72924907	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7424286	0.88[ASN][1000 genomes]
rs7557555	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7557956	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7579037	0.92[ASN][1000 genomes]
rs7586440	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7601588	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7602189	0.92[ASN][1000 genomes]
rs7606361	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]

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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55647800-55652400	Weak transcription	Stomach Mucosa	stomach
2	chr2:55648000-55651000	Weak transcription	HMEC	breast
3	chr2:55648000-55651200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:55648000-55651600	Weak transcription	NHEK	skin
5	chr2:55648000-55652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:55648000-55652200	Weak transcription	HUVEC	blood vessel
7	chr2:55648000-55652200	Weak transcription	NH-A	brain
8	chr2:55648000-55652400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:55648000-55652400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:55648000-55652400	Weak transcription	HSMM	muscle
11	chr2:55648000-55653400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:55648000-55659000	Weak transcription	Adipose Nuclei	Adipose
13	chr2:55648200-55651000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:55648200-55651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:55648200-55652200	Weak transcription	Osteobl	bone
16	chr2:55648400-55651800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:55648400-55652400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:55648400-55652400	Enhancers	A549	lung
19	chr2:55648400-55652400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:55648600-55651000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:55648600-55651200	Weak transcription	K562	blood
22	chr2:55649200-55651000	Weak transcription	NHLF	lung
23	chr2:55649400-55651400	Weak transcription	NHDF-Ad	bronchial
24	chr2:55649400-55652200	Enhancers	Hela-S3	cervix
25	chr2:55649600-55651200	Enhancers	Brain Hippocampus Middle	brain
26	chr2:55649600-55653000	Enhancers	HepG2	liver
27	chr2:55650000-55651200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:55650000-55652400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:55650000-55653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:55650000-55659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:55650200-55650600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:55650200-55651000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:55650200-55652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:55650400-55650800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:55650400-55652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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