Variant report

Variant	rs13084060
Chromosome Location	chr3:47234290-47234291
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	chr3:47212755..47215203-chr3:47233129..47236003,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1024036	0.87[AMR][1000 genomes]
rs10865945	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11130122	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11922925	0.87[AFR][1000 genomes]
rs12330516	1.00[AMR][1000 genomes]
rs13078181	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13079174	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13323092	1.00[AMR][1000 genomes]
rs1874264	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1979736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2350642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28735306	1.00[AMR][1000 genomes]
rs295443	1.00[AMR][1000 genomes]
rs295444	1.00[AMR][1000 genomes]
rs295445	1.00[AMR][1000 genomes]
rs4018904	1.00[AMR][1000 genomes]
rs6442062	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6442063	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6767868	1.00[AMR][1000 genomes]
rs6772449	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6778673	1.00[AMR][1000 genomes]
rs6778687	1.00[AMR][1000 genomes]
rs6787210	0.87[AMR][1000 genomes]
rs6808117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6808629	1.00[AMR][1000 genomes]
rs73831482	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7615774	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7630154	1.00[AMR][1000 genomes]
rs7639121	1.00[AMR][1000 genomes]
rs7643150	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7643181	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7644382	1.00[AMR][1000 genomes]
rs7649413	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7652492	1.00[AMR][1000 genomes]
rs807933	0.87[AMR][1000 genomes]
rs903538	1.00[AMR][1000 genomes]
rs924009	1.00[AMR][1000 genomes]
rs9819475	1.00[AMR][1000 genomes]
rs9823480	1.00[AMR][1000 genomes]
rs9823599	0.85[AMR][1000 genomes]
rs9826488	1.00[AMR][1000 genomes]
rs9827293	1.00[AMR][1000 genomes]
rs9828473	1.00[AMR][1000 genomes]
rs9852167	1.00[AMR][1000 genomes]
rs9861247	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9861265	1.00[AMR][1000 genomes]
rs9869489	1.00[AMR][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv590211	chr3:47189485-47256057	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv3801	chr3:47201530-47246438	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1014457	chr3:47222292-47335175	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv536560	chr3:47222292-47335175	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	esv3343630	chr3:47232548-47238746	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47207000-47253800	Weak transcription	Aorta	Aorta
2	chr3:47207200-47235800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:47208000-47249600	Weak transcription	Ovary	ovary
4	chr3:47208200-47256400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:47208200-47276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:47217800-47236600	Weak transcription	Right Ventricle	heart
7	chr3:47219400-47243400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:47221000-47250200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:47221400-47236000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:47222600-47244200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:47222800-47235400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:47222800-47236800	Weak transcription	Left Ventricle	heart
13	chr3:47222800-47249000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:47222800-47249400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:47223000-47236400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:47223200-47235200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:47223200-47240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:47223400-47242800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:47223400-47245200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:47223400-47256600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:47223800-47252600	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:47223800-47269200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:47224200-47250200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:47228400-47240000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:47233400-47234400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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