Variant report

Variant	rs73849015
Chromosome Location	chr3:78308130-78308131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56124020	0.86[AFR][1000 genomes]
rs58276935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59306456	0.82[AFR][1000 genomes]
rs73845898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73846419	0.82[AFR][1000 genomes]
rs73849014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849023	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877017	chr3:77881397-78670654	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1008290	chr3:77895292-78308583	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv536595	chr3:77895292-78308583	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv529995	chr3:78188643-78739698	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv460726	chr3:78295664-78455767	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv590733	chr3:78295664-78455767	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr3:78304600-78309000	Enhancers	NHLF	lung
2	chr3:78306600-78308800	Enhancers	NH-A	brain
3	chr3:78306800-78309000	Enhancers	HSMMtube	muscle
4	chr3:78306800-78309400	Enhancers	NHDF-Ad	bronchial
5	chr3:78307000-78308200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:78307000-78308400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:78307000-78308600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:78307000-78308600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:78307200-78308400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:78307200-78308800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:78307400-78309000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:78307800-78308400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:78308000-78308400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:78308000-78308600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:78308000-78308800	Enhancers	Rectal Smooth Muscle	rectum

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

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