Variant report

Variant	rs71478667
Chromosome Location	chr15:58747596-58747597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58742210..58745056-chr15:58745443..58748993,3	K562	blood:
2	chr15:58739121..58741793-chr15:58746543..58749268,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10518978	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12591216	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12591624	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12593736	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12594222	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12595191	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12900891	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12902119	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12904507	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12906459	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12908427	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12910028	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12910602	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12913605	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16940338	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17190580	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28478642	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28713618	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2899630	0.85[AMR][1000 genomes]
rs34053638	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34225834	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34297592	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34570549	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34577128	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34744603	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35633916	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35732576	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35771822	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35795657	0.83[AMR][1000 genomes]
rs6494009	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6494010	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6494011	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71478668	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71478671	0.85[AMR][1000 genomes]
rs71478672	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7162384	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7162603	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7165752	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7169744	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7172556	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7174539	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8029592	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8029837	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8041525	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers 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	50 gene(s)	inside rSNPs	diseases
3	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv904267	chr15:58699010-58769583	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1047048	chr15:58701400-58784800	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1043362	chr15:58726337-58756571	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv457173	chr15:58731567-58779039	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv569600	chr15:58731567-58779039	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58737400-58749800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:58737400-58761800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:58737800-58748200	Weak transcription	Left Ventricle	heart
4	chr15:58739600-58749600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:58740400-58748800	Weak transcription	NHLF	lung
6	chr15:58740400-58749800	Weak transcription	Adipose Nuclei	Adipose
7	chr15:58740600-58749600	Weak transcription	Small Intestine	intestine
8	chr15:58740800-58749600	Weak transcription	Liver	Liver
9	chr15:58740800-58749600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:58741600-58748000	Weak transcription	Gastric	stomach
11	chr15:58743800-58770400	Enhancers	Fetal Thymus	thymus
12	chr15:58744200-58751800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:58744600-58747800	Enhancers	Thymus	Thymus
14	chr15:58745000-58748400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:58745000-58748600	Enhancers	Fetal Muscle Leg	muscle
16	chr15:58745200-58747600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:58745200-58751400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:58745400-58747800	Enhancers	Dnd41	blood
19	chr15:58746000-58748200	Enhancers	HSMM	muscle
20	chr15:58746200-58748400	Enhancers	HepG2	liver
21	chr15:58746200-58749800	Enhancers	GM12878-XiMat	blood
22	chr15:58746400-58747600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr15:58746400-58747600	Enhancers	K562	blood
24	chr15:58746400-58747800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:58746400-58748200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:58746600-58747600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:58746600-58749600	Weak transcription	Lung	lung
28	chr15:58746800-58747600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:58746800-58748200	Weak transcription	Spleen	Spleen
30	chr15:58746800-58748400	Enhancers	Brain Germinal Matrix	brain
31	chr15:58746800-58749800	Weak transcription	Primary T cells from cord blood	blood
32	chr15:58747000-58748600	Weak transcription	Pancreas	Pancrea
33	chr15:58747000-58749400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:58747000-58749600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr15:58747000-58749600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:58747000-58749600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:58747000-58749600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:58747000-58749600	Weak transcription	Osteobl	bone
39	chr15:58747000-58751400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:58747000-58752600	Weak transcription	Right Ventricle	heart
41	chr15:58747200-58747600	Enhancers	Stomach Mucosa	stomach
42	chr15:58747200-58747800	Enhancers	Brain Anterior Caudate	brain
43	chr15:58747200-58748200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr15:58747200-58749600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:58747400-58747600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:58747400-58747600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr15:58747400-58747800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr15:58747400-58747800	Enhancers	Brain Hippocampus Middle	brain
49	chr15:58747400-58747800	Enhancers	HSMMtube	muscle
50	chr15:58747400-58749600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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