Variant report

Variant	rs72686423
Chromosome Location	chr1:45731910-45731911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45716599..45723837-chr1:45726714..45733883,8	K562	blood:
2	chr1:45476441..45479268-chr1:45730943..45735268,3	K562	blood:
3	chr1:45731206..45733732-chr1:45740746..45742362,2	K562	blood:
4	chr1:45284070..45285582-chr1:45729873..45732531,2	K562	blood:
5	chr1:45730369..45732064-chr1:45986217..45988033,2	K562	blood:
6	chr1:45730564..45732542-chr1:45986533..45988219,2	K562	blood:

Variant related genes	Relation type
ENSG00000117450	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000126107	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10157175	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10157807	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1152028	0.93[EUR][1000 genomes]
rs11809934	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11810829	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1226732	0.93[EUR][1000 genomes]
rs1226750	0.93[EUR][1000 genomes]
rs1612575	0.93[EUR][1000 genomes]
rs173208	0.87[EUR][1000 genomes]
rs1969084	0.87[EUR][1000 genomes]
rs1995403	0.83[EUR][1000 genomes]
rs2105460	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs346685	0.87[EUR][1000 genomes]
rs346686	0.87[EUR][1000 genomes]
rs346688	0.91[EUR][1000 genomes]
rs346689	0.91[EUR][1000 genomes]
rs346692	0.91[EUR][1000 genomes]
rs346703	0.87[EUR][1000 genomes]
rs346704	0.87[EUR][1000 genomes]
rs346709	0.91[EUR][1000 genomes]
rs346710	0.83[EUR][1000 genomes]
rs346711	0.91[EUR][1000 genomes]
rs346718	0.91[EUR][1000 genomes]
rs346720	0.91[EUR][1000 genomes]
rs346725	0.91[EUR][1000 genomes]
rs346726	0.91[EUR][1000 genomes]
rs346730	0.91[EUR][1000 genomes]
rs409082	0.91[EUR][1000 genomes]
rs412055	0.91[EUR][1000 genomes]
rs4415614	0.82[EUR][1000 genomes]
rs55842174	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55884892	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55996819	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56165953	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57477133	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59222807	0.85[ASN][1000 genomes]
rs60506423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60678516	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61003126	0.86[AFR][1000 genomes]
rs61574129	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72684447	0.87[EUR][1000 genomes]
rs72684454	0.87[EUR][1000 genomes]
rs72684481	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72684482	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72684485	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72684487	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72684488	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72684496	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72684499	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686404	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72686418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72686419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72686420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72686421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72686425	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72686431	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72686433	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72686444	0.88[ASN][1000 genomes]
rs72686446	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
4	nsv998187	chr1:45677251-45732377	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 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	chr1:45730400-45732800	Enhancers	Duodenum Mucosa	Duodenum
2	chr1:45730600-45732600	Weak transcription	Small Intestine	intestine
3	chr1:45730800-45732400	Enhancers	Colonic Mucosa	Colon
4	chr1:45731000-45732200	Enhancers	Ovary	ovary
5	chr1:45731000-45732400	Enhancers	Brain Hippocampus Middle	brain
6	chr1:45731000-45732400	Enhancers	Fetal Intestine Large	intestine
7	chr1:45731000-45732400	Enhancers	Stomach Mucosa	stomach
8	chr1:45731000-45732600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:45731000-45733400	Enhancers	Fetal Intestine Small	intestine
10	chr1:45731000-45733600	Enhancers	HUVEC	blood vessel
11	chr1:45731200-45732000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:45731200-45732800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:45731400-45732400	Enhancers	Pancreas	Pancrea
14	chr1:45731400-45732400	Enhancers	Right Atrium	heart
15	chr1:45731400-45732600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr1:45731600-45732000	Enhancers	Gastric	stomach
17	chr1:45731600-45732000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:45731600-45732200	Enhancers	Aorta	Aorta
19	chr1:45731600-45732400	Enhancers	Adipose Nuclei	Adipose
20	chr1:45731600-45732400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr1:45731600-45732600	Enhancers	Colon Smooth Muscle	Colon
22	chr1:45731600-45733000	Enhancers	NHLF	lung
23	chr1:45731600-45733600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:45731800-45732000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:45731800-45732000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:45731800-45732000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:45731800-45732000	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr1:45731800-45732000	Flanking Active TSS	Hela-S3	cervix
29	chr1:45731800-45732000	Flanking Active TSS	HepG2	liver
30	chr1:45731800-45732200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:45731800-45732200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr1:45731800-45732200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:45731800-45732200	Flanking Active TSS	Osteobl	bone
34	chr1:45731800-45732400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:45731800-45732400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr1:45731800-45732400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:45731800-45732400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr1:45731800-45732400	Flanking Active TSS	A549	lung
39	chr1:45731800-45732600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:45731800-45732600	Enhancers	HMEC	breast
41	chr1:45731800-45732600	Flanking Active TSS	K562	blood
42	chr1:45731800-45732600	Flanking Active TSS	NH-A	brain
43	chr1:45731800-45732800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:45731800-45734200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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