Variant report

Variant	rs58723653
Chromosome Location	chr10:43939947-43939948
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43919040..43921550-chr10:43937785..43940641,2	K562	blood:
2	chr10:43932225..43933767-chr10:43938510..43940620,2	MCF-7	breast:
3	chr10:43931623..43934355-chr10:43938465..43940752,2	K562	blood:
4	chr10:43939246..43942675-chr10:43946277..43949309,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243660	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1338563	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17153606	0.91[ASN][1000 genomes]
rs17153617	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17153622	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460559	0.82[ASN][1000 genomes]
rs2493665	0.86[ASN][1000 genomes]
rs2819033	0.83[ASN][1000 genomes]
rs2893915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4322345	0.86[ASN][1000 genomes]
rs4948728	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4948738	0.81[EUR][1000 genomes]
rs55693949	0.86[ASN][1000 genomes]
rs58461087	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59307177	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60241506	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61858994	0.95[ASN][1000 genomes]
rs7092125	0.91[ASN][1000 genomes]
rs73253725	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74137742	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74137744	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74137746	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74137748	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74137749	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74137751	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7898074	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7900950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7901252	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7901608	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7907072	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7907236	0.90[EUR][1000 genomes]
rs7909278	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9919396	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
7	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43933000-43940200	Weak transcription	Pancreas	Pancrea
2	chr10:43933000-43947200	Weak transcription	Spleen	Spleen
3	chr10:43933000-43949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:43933000-43950200	Weak transcription	Lung	lung
5	chr10:43933200-43940600	Weak transcription	Primary T cells from cord blood	blood
6	chr10:43933200-43947600	Weak transcription	Brain Anterior Caudate	brain
7	chr10:43933200-43948000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:43933200-43950000	Weak transcription	Brain Substantia Nigra	brain
9	chr10:43933200-43950200	Weak transcription	Brain Angular Gyrus	brain
10	chr10:43933200-43950200	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:43933200-43950200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr10:43933200-43950200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:43933400-43940600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr10:43933400-43948000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:43933600-43940000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:43933600-43947200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:43933600-43947400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:43933600-43948200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:43933600-43948200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:43933600-43949800	Weak transcription	Adipose Nuclei	Adipose
21	chr10:43933800-43946600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr10:43934200-43942200	Weak transcription	Fetal Lung	lung
23	chr10:43934200-43949200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:43934400-43940000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr10:43936400-43940000	Weak transcription	HepG2	liver
26	chr10:43936400-43943800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr10:43936400-43950000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:43936600-43940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:43936600-43946000	Weak transcription	Primary B cells from cord blood	blood
30	chr10:43936800-43940000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr10:43936800-43940200	Weak transcription	Colonic Mucosa	Colon
32	chr10:43936800-43941800	Weak transcription	Fetal Stomach	stomach
33	chr10:43936800-43944200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr10:43938600-43940000	Strong transcription	Fetal Intestine Small	intestine
35	chr10:43938600-43948000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:43939600-43940000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr10:43939600-43940200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:43939600-43940800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr10:43939600-43941200	Enhancers	NHEK	skin
40	chr10:43939800-43940000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr10:43939800-43940200	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr10:43939800-43940200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr10:43939800-43940400	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr10:43939800-43940400	Flanking Active TSS	Hela-S3	cervix

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