Variant report

Variant	rs1880214
Chromosome Location	chr3:61220809-61220810
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11920071	1.00[EUR][1000 genomes]
rs11924124	0.83[AMR][1000 genomes]
rs11925562	1.00[EUR][1000 genomes]
rs1453740	1.00[EUR][1000 genomes]
rs17064510	1.00[EUR][1000 genomes]
rs55981089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56665745	1.00[EUR][1000 genomes]
rs61461958	1.00[EUR][1000 genomes]
rs61530280	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6789174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73837547	1.00[EUR][1000 genomes]
rs73839928	1.00[EUR][1000 genomes]
rs7646749	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs9873312	1.00[EUR][1000 genomes]
rs9876522	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759152	chr3:60781943-61220809	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv876866	chr3:61054494-61310328	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv876867	chr3:61054494-61474575	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv432423	chr3:61100255-61606060	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1000378	chr3:61103229-61238089	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2756994	chr3:61144427-61220809	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv876868	chr3:61145050-61282503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv532626	chr3:61159646-61388418	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv997718	chr3:61176349-61222975	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
10	nsv1008399	chr3:61176965-61461349	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61201200-61221000	Weak transcription	Primary T cells from cord blood	blood
2	chr3:61203200-61222200	Weak transcription	Psoas Muscle	Psoas
3	chr3:61203400-61225600	Weak transcription	Lung	lung
4	chr3:61203400-61225600	Weak transcription	Pancreas	Pancrea
5	chr3:61208000-61225600	Weak transcription	Right Atrium	heart
6	chr3:61212000-61222200	Weak transcription	Left Ventricle	heart
7	chr3:61213400-61222200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:61218000-61222200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:61219400-61221000	Enhancers	GM12878-XiMat	blood
10	chr3:61219800-61222000	Weak transcription	Small Intestine	intestine
11	chr3:61219800-61222200	Weak transcription	Brain Substantia Nigra	brain
12	chr3:61220000-61222200	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:61220000-61222400	Weak transcription	Ovary	ovary
14	chr3:61220000-61223200	Weak transcription	Brain Anterior Caudate	brain
15	chr3:61220000-61230000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:61220200-61222200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:61220200-61225600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:61220800-61221000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:61220800-61221000	Enhancers	Right Ventricle	heart

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

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