Variant report

Variant	rs72865589
Chromosome Location	chr2:32546972-32546973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55665681	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57272947	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57785665	0.90[AFR][1000 genomes]
rs59398369	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59675286	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60123798	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61119054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61754192	1.00[ASN][1000 genomes]
rs6737177	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6741519	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755587	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798713	1.00[ASN][1000 genomes]
rs72865559	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865565	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865567	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865568	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865574	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865577	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865581	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865596	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865597	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72867203	0.88[AFR][1000 genomes]
rs72867205	0.88[AFR][1000 genomes]
rs72867248	0.83[AFR][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	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv979327	chr2:32532575-32554303	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
2	chr2:32507800-32550000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:32514000-32553000	Weak transcription	Small Intestine	intestine
4	chr2:32514200-32555800	Weak transcription	Colonic Mucosa	Colon
5	chr2:32517400-32553200	Weak transcription	Stomach Mucosa	stomach
6	chr2:32521000-32554600	Weak transcription	Ovary	ovary
7	chr2:32521800-32552400	Weak transcription	Fetal Kidney	kidney
8	chr2:32523400-32547200	Weak transcription	NH-A	brain
9	chr2:32525400-32548600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:32526800-32548600	Weak transcription	Fetal Brain Female	brain
11	chr2:32528600-32556400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:32528800-32547200	Weak transcription	Lung	lung
13	chr2:32528800-32547400	Weak transcription	Aorta	Aorta
14	chr2:32528800-32548000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:32528800-32548400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:32528800-32555000	Weak transcription	Gastric	stomach
17	chr2:32528800-32555800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:32528800-32555800	Weak transcription	Spleen	Spleen
19	chr2:32528800-32560800	Weak transcription	Right Ventricle	heart
20	chr2:32528800-32566200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:32529000-32554000	Weak transcription	Fetal Heart	heart
22	chr2:32529200-32550000	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:32529800-32565600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:32532200-32553000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:32532400-32548400	Weak transcription	Brain Anterior Caudate	brain
26	chr2:32532600-32548400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:32532600-32550400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:32532800-32547200	Weak transcription	Dnd41	blood
29	chr2:32532800-32547200	Weak transcription	Hela-S3	cervix
30	chr2:32532800-32550000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:32532800-32550400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:32532800-32559800	Weak transcription	HSMM	muscle
33	chr2:32533400-32548400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:32536000-32550400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:32536000-32564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:32536000-32564400	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:32536000-32581400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:32536200-32548400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:32536200-32553600	Weak transcription	Liver	Liver
40	chr2:32536200-32555000	Weak transcription	Fetal Intestine Large	intestine
41	chr2:32536200-32555200	Weak transcription	Fetal Thymus	thymus
42	chr2:32536200-32557200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:32536200-32560200	Weak transcription	Placenta	Placenta
44	chr2:32536200-32565400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:32536200-32566000	Weak transcription	Thymus	Thymus
46	chr2:32536400-32548000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:32536400-32554600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:32536400-32555000	Weak transcription	Fetal Lung	lung
49	chr2:32536400-32558400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:32536400-32565800	Weak transcription	Left Ventricle	heart

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