Variant report

Variant	rs71478672
Chromosome Location	chr15:58784686-58784687
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58765282..58766825-chr15:58783128..58785341,2	K562	blood:
2	chr15:58783009..58786824-chr15:58787772..58790243,5	K562	blood:
3	chr15:58778802..58780678-chr15:58783257..58786951,3	K562	blood:

Variant related genes	Relation type
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10518978	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11634902	0.93[ASN][1000 genomes]
rs12591216	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12591624	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12592407	0.91[ASN][1000 genomes]
rs12593736	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12593880	0.89[ASN][1000 genomes]
rs12594222	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12595191	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12900891	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12902119	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12903955	1.00[ASN][1000 genomes]
rs12904507	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12906459	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12908427	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12910028	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12910602	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12913605	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16940338	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17190580	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17190587	0.93[ASN][1000 genomes]
rs2414581	0.91[ASN][1000 genomes]
rs28478642	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28713618	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2899630	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34053638	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34225834	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34297592	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34570549	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34577128	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34744603	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35633916	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35732576	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35771822	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35795657	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4775053	0.93[ASN][1000 genomes]
rs6494009	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6494010	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6494011	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71478667	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71478668	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71478670	0.95[ASN][1000 genomes]
rs71478671	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7162384	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7162603	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7165752	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7169744	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7172556	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7174539	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8029592	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8029837	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8041525	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	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
7	nsv904268	chr15:58763678-58803225	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr15:58780200-58787800	Weak transcription	Fetal Kidney	kidney
2	chr15:58780800-58786200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr15:58782400-58785600	Enhancers	Fetal Muscle Leg	muscle
4	chr15:58782600-58785600	Enhancers	Fetal Muscle Trunk	muscle
5	chr15:58782600-58785600	Enhancers	HSMMtube	muscle
6	chr15:58782600-58789400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:58782800-58785600	Enhancers	Psoas Muscle	Psoas
8	chr15:58782800-58785600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr15:58783000-58785000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr15:58783000-58785600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr15:58783000-58785600	Enhancers	HSMM	muscle
12	chr15:58783200-58784800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:58783200-58786400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:58783200-58789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:58783400-58788400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr15:58783400-58789600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:58783400-58791600	Enhancers	Fetal Thymus	thymus
18	chr15:58783800-58785200	Enhancers	Brain Substantia Nigra	brain
19	chr15:58783800-58785400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr15:58783800-58788200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr15:58784000-58785600	Enhancers	Thymus	Thymus
22	chr15:58784000-58794800	Weak transcription	Stomach Mucosa	stomach
23	chr15:58784000-58797800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:58784200-58784800	Weak transcription	Right Ventricle	heart
25	chr15:58784200-58785400	Enhancers	HepG2	liver
26	chr15:58784200-58787600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:58784200-58791000	Weak transcription	HMEC	breast
28	chr15:58784400-58785400	Weak transcription	Pancreas	Pancrea
29	chr15:58784400-58787400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr15:58784400-58787400	Weak transcription	Esophagus	oesophagus
31	chr15:58784400-58791200	Weak transcription	Right Atrium	heart
32	chr15:58784400-58795600	Weak transcription	Liver	Liver

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