Variant report

Variant	rs7991794
Chromosome Location	chr13:39277657-39277658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2442332	1.00[AMR][1000 genomes]
rs2442376	1.00[AMR][1000 genomes]
rs2442380	1.00[AMR][1000 genomes]
rs2496421	1.00[AMR][1000 genomes]
rs2496428	1.00[AMR][1000 genomes]
rs7325603	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7329184	0.87[AFR][1000 genomes]
rs9315610	0.83[AMR][1000 genomes]
rs9576609	0.87[AFR][1000 genomes]
rs9603410	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805696	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832584	chr13:39074265-39284724	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv832585	chr13:39233307-39424375	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39265800-39287200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:39268000-39284600	Weak transcription	Fetal Kidney	kidney
3	chr13:39268200-39282400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:39276400-39277800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr13:39276400-39286800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr13:39276600-39277800	Enhancers	Brain Germinal Matrix	brain
7	chr13:39276800-39277800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr13:39277000-39277800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:39277000-39283800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr13:39277200-39277800	Enhancers	Brain Cingulate Gyrus	brain
11	chr13:39277200-39286800	Weak transcription	Fetal Lung	lung
12	chr13:39277400-39278600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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Input of quick search could be:

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

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