Variant report

Variant	rs4943442
Chromosome Location	chr13:37681604-37681605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1199951	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1199956	0.80[EUR][1000 genomes]
rs1199963	0.80[EUR][1000 genomes]
rs1199979	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1199981	0.80[EUR][1000 genomes]
rs1199982	0.80[EUR][1000 genomes]
rs1199986	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1199987	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1199988	0.80[EUR][1000 genomes]
rs1199989	0.80[EUR][1000 genomes]
rs12428936	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12429860	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1336755	0.80[EUR][1000 genomes]
rs17224709	1.00[AFR][1000 genomes]
rs1764483	0.80[EUR][1000 genomes]
rs1764484	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1764486	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1764487	0.80[EUR][1000 genomes]
rs1924426	0.80[EUR][1000 genomes]
rs2211618	0.80[EUR][1000 genomes]
rs2669893	0.80[EUR][1000 genomes]
rs2997189	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2997190	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6563508	0.80[EUR][1000 genomes]
rs73177048	1.00[AFR][1000 genomes]
rs73178852	1.00[AFR][1000 genomes]
rs7326688	0.80[EUR][1000 genomes]
rs7339296	0.80[EUR][1000 genomes]
rs7989380	0.80[EUR][1000 genomes]
rs9576162	0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4943442	SUPT20H	cis	Whole Blood	GTEx
rs4943442	FAM48A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37677800-37682200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr13:37679800-37681800	Weak transcription	Spleen	Spleen
3	chr13:37679800-37682800	Weak transcription	Fetal Stomach	stomach
4	chr13:37680200-37682000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:37680400-37682000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr13:37680400-37682000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:37680400-37682600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:37680600-37681800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr13:37680600-37682000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:37681200-37682800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr13:37681600-37681800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:37681600-37682000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr13:37681600-37682000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr13:37681600-37682800	Weak transcription	Colon Smooth Muscle	Colon
15	chr13:37681600-37685000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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