Variant report

Variant	rs1902062
Chromosome Location	chr2:55651932-55651933
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55646192..55651046-chr2:55651862..55657167,5	K562	blood:
2	chr2:55651546..55653549-chr2:55657687..55659327,2	K562	blood:

Variant related genes	Relation type
ENSG00000115355	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10169185	0.89[AMR][1000 genomes]
rs11125568	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11125569	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11125572	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11695152	0.92[AMR][1000 genomes]
rs12623954	0.82[ASN][1000 genomes]
rs12713297	0.81[ASN][1000 genomes]
rs1454415	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1454419	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1454420	0.82[ASN][1000 genomes]
rs1454423	0.82[ASN][1000 genomes]
rs1454424	0.82[ASN][1000 genomes]
rs1902061	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2045135	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2045136	0.82[AMR][1000 genomes]
rs2123983	0.81[ASN][1000 genomes]
rs2867194	0.90[ASN][1000 genomes]
rs2903514	0.80[ASN][1000 genomes]
rs3748943	0.82[ASN][1000 genomes]
rs3762511	0.82[ASN][1000 genomes]
rs4277563	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4352263	0.81[AMR][1000 genomes]
rs4481025	0.81[ASN][1000 genomes]
rs4672034	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4672035	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4672036	0.81[ASN][1000 genomes]
rs4672037	0.81[ASN][1000 genomes]
rs4672038	0.80[ASN][1000 genomes]
rs4672040	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4672041	0.82[ASN][1000 genomes]
rs4672043	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4672044	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4672045	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs56225989	0.81[AMR][1000 genomes]
rs6545491	0.80[ASN][1000 genomes]
rs6545492	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6720698	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6721593	0.80[ASN][1000 genomes]
rs6732759	0.81[ASN][1000 genomes]
rs6733814	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6744426	0.89[ASN][1000 genomes]
rs6748979	0.82[ASN][1000 genomes]
rs7559987	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7574743	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7579037	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7589279	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7601340	0.81[AMR][1000 genomes]
rs7602189	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7603105	0.92[AMR][1000 genomes];0.97[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55647800-55652400	Weak transcription	Stomach Mucosa	stomach
2	chr2:55648000-55652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:55648000-55652200	Weak transcription	HUVEC	blood vessel
4	chr2:55648000-55652200	Weak transcription	NH-A	brain
5	chr2:55648000-55652400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:55648000-55652400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:55648000-55652400	Weak transcription	HSMM	muscle
8	chr2:55648000-55653400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:55648000-55659000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:55648200-55652200	Weak transcription	Osteobl	bone
11	chr2:55648400-55652400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:55648400-55652400	Enhancers	A549	lung
13	chr2:55648400-55652400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:55649400-55652200	Enhancers	Hela-S3	cervix
15	chr2:55649600-55653000	Enhancers	HepG2	liver
16	chr2:55650000-55652400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:55650000-55653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:55650000-55659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:55650200-55652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:55650400-55652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:55651000-55652400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:55651000-55653400	Enhancers	HMEC	breast
23	chr2:55651200-55653400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:55651200-55653400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:55651600-55652000	Weak transcription	NHDF-Ad	bronchial
26	chr2:55651600-55652000	Weak transcription	NHLF	lung
27	chr2:55651600-55653400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:55651600-55653400	Enhancers	NHEK	skin
29	chr2:55651800-55652200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:55651800-55652200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:55651800-55652200	Weak transcription	K562	blood
32	chr2:55651800-55653200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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