Variant report

Variant	rs34878675
Chromosome Location	chr15:39950158-39950159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10083552	0.86[ASN][1000 genomes]
rs1038097	0.84[EUR][1000 genomes]
rs1051442	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10520141	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10520143	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10520145	1.00[ASN][1000 genomes]
rs10520146	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520148	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382443	0.84[EUR][1000 genomes]
rs1382444	0.84[EUR][1000 genomes]
rs16969484	0.86[ASN][1000 genomes]
rs16969487	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16969491	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16969547	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969573	0.86[ASN][1000 genomes]
rs16969678	0.86[ASN][1000 genomes]
rs17632916	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17633107	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17633210	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17705806	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17706083	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17706179	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1813493	0.86[EUR][1000 genomes]
rs1988555	0.80[EUR][1000 genomes]
rs1994380	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2129457	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228263	0.89[EUR][1000 genomes]
rs2411316	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2618156	0.86[EUR][1000 genomes]
rs2618160	0.85[EUR][1000 genomes]
rs2618161	0.84[EUR][1000 genomes]
rs2618164	0.86[EUR][1000 genomes]
rs2618165	0.86[EUR][1000 genomes]
rs2618167	0.84[EUR][1000 genomes]
rs2664123	0.85[EUR][1000 genomes]
rs2664136	0.86[EUR][1000 genomes]
rs2664137	0.86[EUR][1000 genomes]
rs2664138	0.84[EUR][1000 genomes]
rs2664140	0.85[EUR][1000 genomes]
rs2664142	0.85[EUR][1000 genomes]
rs28377784	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28549326	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28619289	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28653011	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28735552	1.00[ASN][1000 genomes]
rs28785006	1.00[ASN][1000 genomes]
rs4085744	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41315060	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4322636	0.86[ASN][1000 genomes]
rs4415979	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4503768	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45461294	0.90[EUR][1000 genomes]
rs4923835	0.80[EUR][1000 genomes]
rs58188999	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59146042	0.86[ASN][1000 genomes]
rs59578395	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59628570	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60228643	1.00[ASN][1000 genomes]
rs6492905	0.89[EUR][1000 genomes]
rs72727029	1.00[ASN][1000 genomes]
rs74008647	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74008648	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8036035	0.86[ASN][1000 genomes]
rs880270	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs954152	0.87[EUR][1000 genomes]
rs9972350	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv832977	chr15:39817512-39981520	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39938000-39957600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:39938200-39950800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:39944800-39955600	Weak transcription	Fetal Lung	lung
4	chr15:39948400-39956000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:39949000-39950400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr15:39949200-39950200	Enhancers	HSMM	muscle
7	chr15:39949200-39950200	Enhancers	NH-A	brain
8	chr15:39949200-39950200	Enhancers	NHDF-Ad	bronchial
9	chr15:39949200-39950400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:39949200-39950400	Enhancers	Osteobl	bone
11	chr15:39949200-39950800	Enhancers	HUVEC	blood vessel
12	chr15:39949400-39950400	Enhancers	Hela-S3	cervix
13	chr15:39949400-39954000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:39949400-39956200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:39949600-39950200	Weak transcription	HSMMtube	muscle
16	chr15:39949600-39954000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:39949800-39950200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:39949800-39950200	Enhancers	HMEC	breast
19	chr15:39949800-39950400	Enhancers	NHEK	skin
20	chr15:39950000-39953600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:39950000-39953800	Weak transcription	NHLF	lung

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