Variant report

Variant	rs60844978
Chromosome Location	chr3:19314678-19314679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11926350	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005811	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517847	chr3:18845347-19483695	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010123	chr3:18990307-19989504	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1004602	chr3:19031671-19930052	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv536511	chr3:19031671-19930052	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19300000-19324200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:19309200-19322800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:19309800-19316800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:19310000-19316800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:19310400-19314800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:19311200-19316800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:19311400-19316600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:19311400-19316800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:19311600-19316600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:19313400-19315200	Enhancers	Brain Substantia Nigra	brain
11	chr3:19313600-19316200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:19314000-19314800	Enhancers	Brain Cingulate Gyrus	brain
13	chr3:19314000-19315000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:19314000-19315400	Enhancers	Brain Hippocampus Middle	brain
15	chr3:19314600-19315200	Enhancers	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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