Variant report

Variant	rs2991444
Chromosome Location	chr13:79769603-79769604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1755463	0.92[EUR][1000 genomes]
rs2988036	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2988037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2988038	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2988040	0.92[EUR][1000 genomes]
rs2988041	0.92[EUR][1000 genomes]
rs2988042	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2988043	0.92[EUR][1000 genomes]
rs2988045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2988046	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2988047	0.92[EUR][1000 genomes]
rs2991445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41364649	1.00[MEX][hapmap]
rs588755	0.92[EUR][1000 genomes]
rs597726	0.92[EUR][1000 genomes]
rs662378	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662380	0.92[EUR][1000 genomes]
rs671700	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680178	0.92[EUR][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	nsv916612	chr13:79669876-79820692	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1045334	chr13:79671094-79809717	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr13:79757800-79775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:79764200-79771000	Enhancers	Primary B cells from peripheral blood	blood
3	chr13:79764600-79770800	Enhancers	Primary B cells from cord blood	blood
4	chr13:79765400-79771600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:79766600-79769800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:79767600-79769800	Flanking Active TSS	GM12878-XiMat	blood
7	chr13:79768400-79770400	Enhancers	Thymus	Thymus
8	chr13:79768800-79770200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr13:79768800-79771000	Enhancers	Fetal Thymus	thymus
10	chr13:79769600-79770000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr13:79769600-79770400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:79769600-79786600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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