Variant report

Variant	rs58991487
Chromosome Location	chr3:119645260-119645261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119615199..119618060-chr3:119644767..119646419,2	K562	blood:
2	chr3:119640550..119642915-chr3:119645017..119647596,2	MCF-7	breast:
3	chr3:119643647..119646085-chr3:119668156..119670521,2	MCF-7	breast:
4	chr3:119640713..119642665-chr3:119644484..119646824,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1037974	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13322562	1.00[ASN][1000 genomes]
rs1579030	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1579032	0.95[AFR][1000 genomes]
rs17246730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17246737	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1903764	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28821007	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34002644	1.00[ASN][1000 genomes]
rs4491944	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4552394	0.85[AMR][1000 genomes]
rs57027844	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57132942	1.00[ASN][1000 genomes]
rs58299321	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58371446	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59368677	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59703574	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs60049973	1.00[ASN][1000 genomes]
rs60325644	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60675046	0.90[AFR][1000 genomes]
rs60993278	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61091679	1.00[EUR][1000 genomes]
rs61188334	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61511292	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61566983	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6796550	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72548703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854776	1.00[EUR][1000 genomes]
rs73854793	1.00[EUR][1000 genomes]
rs922337	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9812149	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9834346	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843795	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9849889	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9853463	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9865193	1.00[ASN][1000 genomes]
rs9867915	1.00[ASN][1000 genomes]
rs9872321	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119546000-119663400	Weak transcription	Lung	lung
2	chr3:119597600-119659000	Weak transcription	Gastric	stomach
3	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:119611200-119667000	Weak transcription	Pancreas	Pancrea
5	chr3:119611400-119649400	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
7	chr3:119625000-119668200	Weak transcription	Hela-S3	cervix
8	chr3:119628200-119655600	Weak transcription	Fetal Heart	heart
9	chr3:119628200-119663200	Weak transcription	Right Atrium	heart
10	chr3:119628400-119651000	Weak transcription	Right Ventricle	heart
11	chr3:119629600-119672200	Weak transcription	Fetal Stomach	stomach
12	chr3:119630200-119645400	Weak transcription	HUVEC	blood vessel
13	chr3:119630800-119663200	Weak transcription	Esophagus	oesophagus
14	chr3:119630800-119697400	Weak transcription	Thymus	Thymus
15	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:119631200-119647800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:119631200-119650400	Weak transcription	Small Intestine	intestine
18	chr3:119631400-119646200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:119631400-119660800	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:119631600-119656000	Weak transcription	NHEK	skin
21	chr3:119632200-119645400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:119633400-119655600	Weak transcription	Fetal Kidney	kidney
23	chr3:119634000-119656200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr3:119635000-119649400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr3:119635000-119652000	Weak transcription	Adipose Nuclei	Adipose
26	chr3:119635000-119665400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr3:119635000-119667000	Weak transcription	Placenta	Placenta
28	chr3:119635400-119664600	Weak transcription	HMEC	breast
29	chr3:119636200-119645400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:119636400-119667200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:119638800-119648200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:119638800-119655400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:119638800-119656000	Weak transcription	Primary T cells from cord blood	blood
34	chr3:119639400-119651600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:119640000-119646800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:119640000-119649200	Weak transcription	Fetal Brain Female	brain
37	chr3:119640000-119649400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr3:119640000-119650600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:119640000-119663800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr3:119640200-119655800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr3:119640400-119649400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:119640400-119656000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr3:119640600-119649200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:119640600-119649200	Weak transcription	A549	lung
45	chr3:119640600-119664400	Weak transcription	HSMM	muscle
46	chr3:119640600-119665000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr3:119640600-119672400	Weak transcription	Osteobl	bone
48	chr3:119640800-119658000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:119640800-119665400	Weak transcription	Fetal Thymus	thymus
50	chr3:119641000-119648600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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