Variant report

Variant	rs58992191
Chromosome Location	chr3:113202732-113202733
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs2270784	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2306792	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57006145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57188651	0.82[EUR][1000 genomes]
rs57251392	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57357573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57414437	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57417572	0.84[ASN][1000 genomes]
rs57591967	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57797139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58121831	0.84[ASN][1000 genomes]
rs58248101	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58500233	0.82[EUR][1000 genomes]
rs58551767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58890779	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59275119	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59719772	0.82[EUR][1000 genomes]
rs59911537	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60633405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60874642	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61151383	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61187530	0.82[EUR][1000 genomes]
rs61258912	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61469498	0.82[EUR][1000 genomes]
rs61617377	0.82[EUR][1000 genomes]
rs6768642	0.84[ASN][1000 genomes]
rs6780086	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6790910	0.84[ASN][1000 genomes]
rs72950843	0.82[EUR][1000 genomes]
rs72950844	0.82[EUR][1000 genomes]
rs72950845	0.82[EUR][1000 genomes]
rs72950848	0.82[EUR][1000 genomes]
rs72950850	0.82[EUR][1000 genomes]
rs72950860	0.82[EUR][1000 genomes]
rs72950862	0.82[EUR][1000 genomes]
rs72950865	0.82[EUR][1000 genomes]
rs72950869	0.82[EUR][1000 genomes]
rs72950870	0.82[EUR][1000 genomes]
rs7619717	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7621031	0.84[ASN][1000 genomes]
rs7621039	0.84[ASN][1000 genomes]
rs7622062	0.84[ASN][1000 genomes]
rs775218	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113160600-113203800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:113160800-113203800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:113160800-113203800	Weak transcription	Aorta	Aorta
4	chr3:113160800-113224800	Weak transcription	Placenta	Placenta
5	chr3:113160800-113232600	Weak transcription	Right Ventricle	heart
6	chr3:113166600-113203800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:113172600-113203800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:113172800-113232800	Weak transcription	HSMMtube	muscle
9	chr3:113176400-113233200	Weak transcription	Gastric	stomach
10	chr3:113177400-113225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:113177600-113224400	Weak transcription	Spleen	Spleen
12	chr3:113179600-113204000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:113179600-113215200	Weak transcription	HMEC	breast
14	chr3:113179600-113217200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:113179600-113232400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:113179600-113232800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:113182000-113203800	Weak transcription	Esophagus	oesophagus
18	chr3:113182000-113203800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:113184000-113233200	Weak transcription	Pancreas	Pancrea
20	chr3:113184800-113204800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:113187200-113203800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:113187200-113203800	Weak transcription	Ovary	ovary
23	chr3:113187200-113207200	Weak transcription	Thymus	Thymus
24	chr3:113187200-113224400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:113187400-113203800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr3:113187400-113203800	Weak transcription	Hela-S3	cervix
27	chr3:113187800-113203800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:113187800-113203800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:113187800-113203800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:113187800-113204600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:113187800-113207000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:113187800-113209400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:113188000-113203800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:113188000-113203800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:113188000-113203800	Weak transcription	Dnd41	blood
36	chr3:113188000-113206000	Weak transcription	Liver	Liver
37	chr3:113188000-113206200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:113188000-113207000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:113188000-113211400	Weak transcription	Osteobl	bone
40	chr3:113188000-113215000	Weak transcription	NH-A	brain
41	chr3:113188200-113203800	Weak transcription	Left Ventricle	heart
42	chr3:113189000-113203800	Weak transcription	Fetal Lung	lung
43	chr3:113189000-113203800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr3:113189000-113206000	Weak transcription	Adipose Nuclei	Adipose
45	chr3:113189000-113207200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr3:113189200-113207000	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:113189400-113203800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:113189800-113203800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:113189800-113203800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:113189800-113208000	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links