Variant report

Variant	rs34384012
Chromosome Location	chr15:30357450-30357451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11631476	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35940257	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35983185	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62016973	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8034350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038302	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8039415	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv456739	chr15:30178614-30366247	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv568716	chr15:30178614-30366247	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv431371	chr15:30193316-31012794	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
6	esv2751527	chr15:30245808-30605836	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv427954	chr15:30292944-30458813	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv1819007	chr15:30292944-31018462	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	esv1824179	chr15:30292944-31051705	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv428300	chr15:30292944-31051705	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
11	esv2758374	chr15:30292944-31152491	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	esv2760022	chr15:30292944-31177476	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
13	esv1823206	chr15:30308088-30858486	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
14	nsv832946	chr15:30318810-30507542	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv974544	chr15:30338551-30373033	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv518720	chr15:30346230-31106826	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
17	esv1821764	chr15:30348514-30926365	Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
18	esv1816989	chr15:30352811-30910092	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
19	esv1820957	chr15:30353491-30901911	Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30355000-30357800	Enhancers	HSMMtube	muscle
2	chr15:30355000-30358200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:30355000-30358200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:30355200-30357600	Enhancers	A549	lung
5	chr15:30355200-30358200	Enhancers	Brain Substantia Nigra	brain
6	chr15:30355400-30358000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:30355400-30358200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:30355600-30357600	Enhancers	Brain Hippocampus Middle	brain
9	chr15:30355800-30358200	Enhancers	Adipose Nuclei	Adipose
10	chr15:30356000-30357600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:30356000-30357600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:30356000-30357600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:30356000-30357800	Enhancers	Brain Angular Gyrus	brain
14	chr15:30356400-30357600	Enhancers	Colon Smooth Muscle	Colon
15	chr15:30356400-30357800	Enhancers	Aorta	Aorta
16	chr15:30356400-30357800	Enhancers	Ovary	ovary
17	chr15:30356400-30358000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr15:30356600-30357800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:30356800-30357800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:30357000-30357600	Enhancers	NHEK	skin
21	chr15:30357000-30358000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:30357000-30358200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:30357200-30357600	Enhancers	NHDF-Ad	bronchial
24	chr15:30357200-30357800	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr15:30357200-30357800	Enhancers	Fetal Lung	lung
26	chr15:30357200-30357800	Flanking Active TSS	Hela-S3	cervix
27	chr15:30357200-30358000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:30357200-30358000	Enhancers	Fetal Kidney	kidney
29	chr15:30357200-30358000	Enhancers	Fetal Stomach	stomach
30	chr15:30357200-30358000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr15:30357200-30358000	Enhancers	HMEC	breast
32	chr15:30357200-30358000	Flanking Active TSS	NH-A	brain
33	chr15:30357200-30358200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:30357200-30358200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr15:30357200-30358200	Enhancers	Rectal Smooth Muscle	rectum
36	chr15:30357400-30357600	Enhancers	Osteobl	bone
37	chr15:30357400-30357800	Active TSS	Muscle Satellite Cultured Cells	--
38	chr15:30357400-30357800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:30357400-30357800	Active TSS	HSMM	muscle
40	chr15:30357400-30358200	Enhancers	Liver	Liver
41	chr15:30357400-30358200	Active TSS	Brain Anterior Caudate	brain
42	chr15:30357400-30360000	Weak transcription	Right Atrium	heart
43	chr15:30357400-30360200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:30357400-30364000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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