Variant report

Variant	rs74043047
Chromosome Location	chr13:30762049-30762050
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs472160	1.00[AMR][1000 genomes]
rs501877	1.00[AMR][1000 genomes]
rs501911	1.00[AMR][1000 genomes]
rs506517	1.00[AMR][1000 genomes]
rs509729	1.00[AMR][1000 genomes]
rs537597	1.00[AMR][1000 genomes]
rs56292131	1.00[AMR][1000 genomes]
rs564949	1.00[AMR][1000 genomes]
rs58662887	1.00[AMR][1000 genomes]
rs60673071	1.00[AMR][1000 genomes]
rs631673	1.00[AMR][1000 genomes]
rs658913	1.00[AMR][1000 genomes]
rs663161	1.00[AMR][1000 genomes]
rs683993	1.00[AMR][1000 genomes]
rs74043017	1.00[AMR][1000 genomes]
rs74043029	1.00[AMR][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	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3386665	chr13:30760452-30764350	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30747600-30766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:30754000-30798800	Weak transcription	Brain Anterior Caudate	brain
3	chr13:30755200-30766600	Weak transcription	Fetal Kidney	kidney
4	chr13:30756600-30764800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:30757600-30774200	Weak transcription	Left Ventricle	heart
6	chr13:30760600-30762200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:30760800-30781800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr13:30761200-30765200	Weak transcription	Fetal Intestine Small	intestine
9	chr13:30761200-30769800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:30761400-30769400	Weak transcription	Thymus	Thymus
11	chr13:30761600-30765200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:30761600-30769400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:30761600-30792800	Weak transcription	Fetal Brain Male	brain
14	chr13:30761800-30769400	Weak transcription	Fetal Brain Female	brain
15	chr13:30761800-30769800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr13:30761800-30769800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:30762000-30770800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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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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