Variant report

Variant	rs2987331
Chromosome Location	chr13:67730036-67730037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2985922	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2985924	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2985925	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2987328	0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2987329	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2987333	0.86[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2987334	1.00[ASW][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3013560	1.00[AMR][1000 genomes]
rs3013644	0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][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	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv430581	chr13:67572850-67762288	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv430582	chr13:67589898-67762299	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1053514	chr13:67687520-67775011	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67722200-67735400	Weak transcription	Left Ventricle	heart
2	chr13:67725400-67731600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:67729400-67730400	Enhancers	A549	lung
4	chr13:67729600-67730200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr13:67729600-67730200	Enhancers	K562	blood
6	chr13:67729600-67730400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr13:67730000-67730200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr13:67730000-67730200	Flanking Active TSS	Brain Substantia Nigra	brain
9	chr13:67730000-67730400	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr13:67730000-67730600	Enhancers	Gastric	stomach
11	chr13:67730000-67730800	Active TSS	Brain Angular Gyrus	brain
12	chr13:67730000-67731000	Active TSS	Brain Cingulate 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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