Variant report

Variant	rs4415519
Chromosome Location	chr1:79508661-79508662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10735754	1.00[EUR][1000 genomes]
rs10747360	1.00[AMR][1000 genomes]
rs10874008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10874009	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10874019	1.00[EUR][1000 genomes]
rs10874021	1.00[EUR][1000 genomes]
rs11162602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11162639	1.00[EUR][1000 genomes]
rs11162641	1.00[EUR][1000 genomes]
rs12022544	0.95[AFR][1000 genomes]
rs12057337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1487543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1487558	1.00[EUR][1000 genomes]
rs1487559	1.00[EUR][1000 genomes]
rs1953083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2087195	1.00[AMR][1000 genomes]
rs228459	1.00[EUR][1000 genomes]
rs228464	1.00[EUR][1000 genomes]
rs228548	1.00[EUR][1000 genomes]
rs228555	1.00[EUR][1000 genomes]
rs402398	1.00[EUR][1000 genomes]
rs4414001	1.00[AMR][1000 genomes]
rs4650385	1.00[EUR][1000 genomes]
rs4650386	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650637	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61769016	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6424629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6424635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6424636	1.00[EUR][1000 genomes]
rs6662620	1.00[EUR][1000 genomes]
rs6684178	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700121	1.00[EUR][1000 genomes]
rs7527791	1.00[EUR][1000 genomes]
rs7546780	1.00[AMR][1000 genomes];1.00[EUR][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	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv546619	chr1:79233493-79614989	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2830430	chr1:79310760-79555593	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1010441	chr1:79320299-79555315	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1001894	chr1:79351364-79542576	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv535014	chr1:79351364-79542576	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv546623	chr1:79374579-79509109	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv871525	chr1:79403335-79518810	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv871276	chr1:79407980-79520554	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv462139	chr1:79471959-79519427	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv546629	chr1:79471959-79519427	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv546630	chr1:79506410-79557804	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 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	chr1:79506600-79508800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:79506800-79508800	Enhancers	GM12878-XiMat	blood
3	chr1:79506800-79509000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:79506800-79509200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:79506800-79509200	Weak transcription	HSMM	muscle
6	chr1:79506800-79509400	Weak transcription	HMEC	breast
7	chr1:79506800-79509600	Enhancers	HUVEC	blood vessel
8	chr1:79506800-79509800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:79506800-79509800	Enhancers	Osteobl	bone
10	chr1:79507000-79511400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:79507600-79511600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:79508000-79509800	Enhancers	NH-A	brain
13	chr1:79508200-79509000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:79508200-79509600	Enhancers	NHDF-Ad	bronchial
15	chr1:79508400-79509000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:79508400-79509200	Weak transcription	NHLF	lung
17	chr1:79508400-79510000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:79508600-79508800	Active TSS	A549	lung
19	chr1:79508600-79509200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:79508600-79509200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:79508600-79509400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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