Variant report

Variant	rs2485472
Chromosome Location	chr1:155833582-155833583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155828307..155831270-chr1:155832837..155834825,2	K562	blood:

Variant related genes	Relation type
ENSG00000116580	Chromatin interaction
ENSG00000132718	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10796952	0.89[AMR][1000 genomes]
rs11264417	0.83[AFR][1000 genomes]
rs1621690	0.82[AFR][1000 genomes]
rs1625821	1.00[AMR][1000 genomes]
rs1627630	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs168343	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs171168	1.00[AMR][1000 genomes]
rs1749412	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749413	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749420	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749422	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1756242	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1765280	0.97[AFR][1000 genomes]
rs1765283	0.82[AFR][1000 genomes]
rs1765286	0.83[AFR][1000 genomes]
rs1886618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2136920	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2175389	1.00[AMR][1000 genomes]
rs2363017	1.00[AMR][1000 genomes]
rs2481623	0.88[AFR][1000 genomes]
rs2485470	0.86[AFR][1000 genomes]
rs2666828	0.89[AMR][1000 genomes]
rs2686264	0.89[AMR][1000 genomes]
rs2885676	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2988999	0.89[AMR][1000 genomes]
rs348184	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348188	0.89[AMR][1000 genomes]
rs348189	0.89[AMR][1000 genomes]
rs348191	1.00[AMR][1000 genomes]
rs348193	0.89[AMR][1000 genomes]
rs348197	1.00[AMR][1000 genomes]
rs348199	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348200	1.00[AMR][1000 genomes]
rs348207	1.00[AMR][1000 genomes]
rs348208	1.00[AMR][1000 genomes]
rs348209	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35264557	0.89[AMR][1000 genomes]
rs4581273	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs492669	0.89[AMR][1000 genomes]
rs4971058	0.89[AMR][1000 genomes]
rs512551	1.00[AMR][1000 genomes]
rs540380	1.00[AMR][1000 genomes]
rs568672	1.00[AMR][1000 genomes]
rs606755	1.00[AMR][1000 genomes]
rs607036	0.89[AMR][1000 genomes]
rs617232	0.89[AMR][1000 genomes]
rs6427290	0.95[AFR][1000 genomes]
rs6688399	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs670787	0.89[AMR][1000 genomes]
rs708607	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs708609	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs708613	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8179457	1.00[AMR][1000 genomes]
rs822013	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822014	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822017	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822021	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822023	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822024	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822027	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822479	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822481	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822485	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822487	0.97[AFR][1000 genomes]
rs822492	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822496	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs822498	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822521	0.90[AFR][1000 genomes]
rs822522	1.00[AMR][1000 genomes]
rs822524	0.85[AFR][1000 genomes]
rs866603	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427219	0.89[AMR][1000 genomes]
rs9427222	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427227	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427229	0.80[AFR][1000 genomes];1.00[AMR][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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155829600-155841000	Weak transcription	Pancreas	Pancrea
2	chr1:155830000-155869000	Weak transcription	Gastric	stomach
3	chr1:155830200-155841000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:155830400-155834200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:155830400-155840600	Weak transcription	Spleen	Spleen
6	chr1:155830400-155841200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:155830400-155843800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:155830400-155843800	Weak transcription	Lung	lung
9	chr1:155830400-155865800	Weak transcription	Esophagus	oesophagus
10	chr1:155830600-155838400	Weak transcription	Ovary	ovary
11	chr1:155830600-155841000	Weak transcription	Left Ventricle	heart
12	chr1:155830600-155850200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:155830600-155866800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:155830800-155837800	Weak transcription	Right Ventricle	heart
15	chr1:155830800-155838000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:155830800-155838000	Weak transcription	Aorta	Aorta
17	chr1:155830800-155838000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:155830800-155838200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:155830800-155839000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:155830800-155839400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:155830800-155839600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:155830800-155850400	Weak transcription	Adipose Nuclei	Adipose
23	chr1:155830800-155852000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:155831000-155833800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:155831000-155833800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:155831000-155834200	Weak transcription	HSMM	muscle
27	chr1:155831000-155834200	Weak transcription	HSMMtube	muscle
28	chr1:155831000-155837200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:155831000-155838000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:155831000-155838400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr1:155831000-155838400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:155831000-155840000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:155831000-155840800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:155831000-155848800	Weak transcription	Fetal Intestine Large	intestine
35	chr1:155831000-155849200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:155831000-155850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:155831000-155851000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:155831000-155862600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:155831000-155862800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:155831000-155863000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:155831200-155834200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:155831200-155837200	Weak transcription	Fetal Stomach	stomach
43	chr1:155831200-155837400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:155831200-155837400	Weak transcription	NHLF	lung
45	chr1:155831200-155837800	Weak transcription	Osteobl	bone
46	chr1:155831200-155838000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:155831200-155841200	Weak transcription	NHDF-Ad	bronchial
48	chr1:155831200-155862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:155831400-155833800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:155831400-155834200	Weak transcription	Muscle Satellite Cultured Cells	--

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