Variant report

Variant	rs2218260
Chromosome Location	chr15:58214210-58214211
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	chr15:58213469..58215325-chr15:58403221..58404811,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10518961	0.89[JPT][hapmap]
rs1063666	0.85[CHD][hapmap]
rs11071364	0.89[JPT][hapmap]
rs11071367	0.89[JPT][hapmap]
rs12148281	0.89[JPT][hapmap]
rs12440501	0.80[EUR][1000 genomes]
rs12594082	0.82[CHD][hapmap];0.89[JPT][hapmap]
rs12595180	0.89[JPT][hapmap]
rs12898976	0.89[JPT][hapmap]
rs12903724	0.89[JPT][hapmap]
rs12907125	0.89[JPT][hapmap]
rs12909423	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs12912093	0.89[JPT][hapmap]
rs12914388	0.89[JPT][hapmap]
rs12914603	0.89[JPT][hapmap]
rs12917536	0.89[JPT][hapmap]
rs1348197	0.81[EUR][1000 genomes]
rs1372369	0.89[JPT][hapmap]
rs1441815	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs1441829	0.81[CHD][hapmap];0.89[JPT][hapmap]
rs17820966	0.80[CHD][hapmap];0.89[JPT][hapmap]
rs17820990	0.89[JPT][hapmap]
rs1816777	0.81[EUR][1000 genomes]
rs1816778	0.81[EUR][1000 genomes]
rs1822205	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs1899355	0.81[CHD][hapmap];0.89[JPT][hapmap]
rs1994926	0.89[JPT][hapmap]
rs1994927	0.89[JPT][hapmap]
rs2067062	0.89[JPT][hapmap]
rs2414527	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs2414530	0.80[CHD][hapmap];0.89[JPT][hapmap]
rs2642630	0.89[JPT][hapmap]
rs2642632	0.89[JPT][hapmap]
rs2704225	0.89[JPT][hapmap]
rs2899611	0.89[JPT][hapmap]
rs2899613	0.89[JPT][hapmap]
rs3742959	0.85[CHD][hapmap]
rs3784257	0.82[CHD][hapmap];0.89[JPT][hapmap]
rs3784259	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs3784264	0.89[JPT][hapmap];0.88[YRI][hapmap]
rs4144005	0.89[JPT][hapmap]
rs4238327	0.89[JPT][hapmap]
rs4646554	0.89[JPT][hapmap]
rs4646555	0.89[JPT][hapmap]
rs4646557	0.88[JPT][hapmap]
rs4646559	0.89[JPT][hapmap]
rs4646560	0.89[JPT][hapmap]
rs4646564	0.89[JPT][hapmap]
rs4646579	0.89[JPT][hapmap]
rs4646580	0.89[JPT][hapmap]
rs4646581	0.89[JPT][hapmap]
rs4646582	0.89[JPT][hapmap]
rs4646584	0.89[JPT][hapmap]
rs4646588	0.89[JPT][hapmap]
rs4646589	0.89[JPT][hapmap]
rs4646590	0.81[CHD][hapmap];0.89[JPT][hapmap]
rs4646594	0.81[CHD][hapmap];0.89[JPT][hapmap]
rs4646595	0.81[CHD][hapmap];0.89[JPT][hapmap]
rs4646600	0.89[JPT][hapmap]
rs4646605	0.89[JPT][hapmap]
rs4646606	0.89[JPT][hapmap]
rs4646607	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs4646609	0.89[JPT][hapmap]
rs4646625	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs4646626	0.82[CHD][hapmap];0.89[JPT][hapmap]
rs4646642	0.85[CHD][hapmap]
rs6493977	0.89[JPT][hapmap]
rs6493979	0.89[JPT][hapmap]
rs6493981	0.89[JPT][hapmap]
rs7171261	0.89[JPT][hapmap]
rs7173078	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7178598	0.80[CHD][hapmap];0.89[JPT][hapmap]
rs7180059	0.89[JPT][hapmap]
rs7498008	0.80[EUR][1000 genomes]
rs8024164	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8026952	0.89[JPT][hapmap]
rs8027188	0.95[JPT][hapmap]
rs8032572	0.80[CHD][hapmap];0.89[JPT][hapmap]
rs8041644	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs920636	0.86[AMR][1000 genomes];0.99[EUR][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	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv833023	chr15:58161839-58340174	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv569593	chr15:58201698-58308650	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr15:58207200-58214600	Weak transcription	Fetal Kidney	kidney
2	chr15:58207400-58214600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:58207600-58215000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:58209200-58214800	Weak transcription	Lung	lung
5	chr15:58209200-58215000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:58209400-58214600	Weak transcription	Fetal Lung	lung
7	chr15:58211000-58214400	Weak transcription	Pancreas	Pancrea
8	chr15:58211800-58217200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr15:58212200-58216400	Enhancers	Left Ventricle	heart
10	chr15:58212400-58217400	Enhancers	Fetal Muscle Leg	muscle
11	chr15:58212600-58215200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr15:58212600-58217000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr15:58212800-58214400	Weak transcription	Spleen	Spleen
14	chr15:58212800-58216000	Weak transcription	Esophagus	oesophagus
15	chr15:58213000-58215400	Enhancers	HUVEC	blood vessel
16	chr15:58213200-58215400	Enhancers	Right Ventricle	heart
17	chr15:58213200-58216600	Enhancers	Ovary	ovary
18	chr15:58213200-58217200	Enhancers	Adipose Nuclei	Adipose
19	chr15:58213400-58214400	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:58213400-58214400	Weak transcription	Fetal Heart	heart
21	chr15:58213400-58214800	Weak transcription	Gastric	stomach
22	chr15:58213600-58214600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:58213600-58214600	Weak transcription	Stomach Mucosa	stomach
24	chr15:58213600-58215000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:58213600-58216200	Enhancers	Small Intestine	intestine
26	chr15:58213800-58215600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr15:58214000-58214400	Weak transcription	Right Atrium	heart
28	chr15:58214000-58215000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:58214000-58215000	Weak transcription	HSMMtube	muscle
30	chr15:58214000-58215200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:58214000-58215600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:58214000-58215600	Weak transcription	HSMM	muscle
33	chr15:58214000-58217600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:58214200-58216200	Enhancers	Psoas Muscle	Psoas
35	chr15:58214200-58216800	Enhancers	Liver	Liver

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