Variant report

Variant	rs2505522
Chromosome Location	chr10:43803741-43803742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43720964..43723652-chr10:43803043..43805548,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2460541	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2493649	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2493651	0.94[AMR][1000 genomes]
rs2503873	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2505519	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2819030	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv895085	chr10:43695049-43804617	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035873	chr10:43721143-43873664	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv466882	chr10:43721481-43849358	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv550697	chr10:43721481-43849358	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1044422	chr10:43731521-43860307	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43800800-43803800	Weak transcription	Brain Anterior Caudate	brain
2	chr10:43800800-43803800	Weak transcription	Brain Substantia Nigra	brain
3	chr10:43800800-43803800	Weak transcription	Ovary	ovary
4	chr10:43800800-43804000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr10:43800800-43804000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:43800800-43804000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:43800800-43804000	Weak transcription	Esophagus	oesophagus
8	chr10:43800800-43804000	Weak transcription	Right Atrium	heart
9	chr10:43800800-43804800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr10:43801000-43804000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:43801000-43804000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr10:43801000-43804000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr10:43801000-43804200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:43801000-43804400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr10:43801000-43804400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:43801800-43804400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:43801800-43804600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr10:43802200-43803800	Weak transcription	Brain Hippocampus Middle	brain
19	chr10:43802200-43803800	Weak transcription	A549	lung
20	chr10:43803600-43805200	Enhancers	Brain Cingulate Gyrus	brain
21	chr10:43803600-43806000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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