Variant report

Variant	rs71427013
Chromosome Location	chr2:95729638-95729639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12471385	0.81[EUR][1000 genomes]
rs13005775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1003666	chr2:95618109-95772924	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS 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	14 gene(s)	inside rSNPs	diseases
4	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak 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 target site	59 gene(s)	inside rSNPs	diseases
5	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71427013	AC008268.2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95721600-95729800	Enhancers	Fetal Thymus	thymus
2	chr2:95724400-95729800	Enhancers	Brain Cingulate Gyrus	brain
3	chr2:95724400-95729800	Enhancers	Brain Hippocampus Middle	brain
4	chr2:95724400-95729800	Enhancers	Esophagus	oesophagus
5	chr2:95725800-95732000	Weak transcription	Pancreas	Pancrea
6	chr2:95726400-95730000	Enhancers	Dnd41	blood
7	chr2:95726800-95729800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:95726800-95729800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr2:95727000-95729800	Enhancers	Primary T cells from cord blood	blood
10	chr2:95727800-95730000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:95728400-95729800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:95729000-95730000	Enhancers	GM12878-XiMat	blood
13	chr2:95729000-95730400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:95729000-95731000	Weak transcription	Brain Anterior Caudate	brain
15	chr2:95729600-95729800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:95729600-95729800	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:95729600-95737200	Weak transcription	Brain Angular Gyrus	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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