Variant report

Variant	rs60998215
Chromosome Location	chr2:134424719-134424720
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16827348	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59384957	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6430440	1.00[AMR][1000 genomes]
rs72998142	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998162	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002007	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7561867	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3458360	chr2:134423295-134426437	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3458359	chr2:134423298-134426408	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3458358	chr2:134423343-134426410	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3458361	chr2:134423449-134426303	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv20489	chr2:134423489-134426085	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134411200-134429800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:134424000-134425400	Enhancers	HUVEC	blood vessel
3	chr2:134424400-134424800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:134424400-134424800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:134424400-134425000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:134424400-134425200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:134424400-134425200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:134424400-134425200	Enhancers	NHDF-Ad	bronchial
9	chr2:134424400-134425200	Enhancers	Osteobl	bone
10	chr2:134424400-134425400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:134424400-134425600	Enhancers	NH-A	brain
12	chr2:134424600-134425200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:134424600-134425200	Enhancers	HMEC	breast
14	chr2:134424600-134425200	Enhancers	NHEK	skin
15	chr2:134424600-134425200	Enhancers	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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