Variant report

Variant	rs2105044
Chromosome Location	chr13:80382355-80382356
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1119379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12584389	0.81[AFR][1000 genomes]
rs2027145	0.95[AFR][1000 genomes]
rs2095466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4885663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4885666	0.91[AFR][1000 genomes]
rs57927070	0.87[AFR][1000 genomes]
rs58845200	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61596567	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6563134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7332414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7990489	1.00[AMR][1000 genomes]
rs9530961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9545199	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs986832	1.00[AFR][1000 genomes];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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv900590	chr13:80342186-80421340	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80374200-80384000	Weak transcription	Fetal Heart	heart
2	chr13:80377000-80384000	Weak transcription	HUVEC	blood vessel
3	chr13:80377400-80385400	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:80378400-80384000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:80378400-80385800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr13:80378400-80386000	Weak transcription	Spleen	Spleen
7	chr13:80378400-80386400	Weak transcription	Thymus	Thymus
8	chr13:80378800-80384200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:80379200-80384400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr13:80379600-80384000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:80379800-80384000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:80380000-80383800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:80380200-80384200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:80380400-80384200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:80380800-80382400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:80381200-80383000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:80381200-80384000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr13:80381200-80384200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr13:80381400-80383400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:80381400-80384000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:80381400-80384800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr13:80381600-80383000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr13:80381800-80382400	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr13:80382200-80382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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