Variant report

Variant	rs73175858
Chromosome Location	chr3:119634453-119634454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119628367..119630716-chr3:119632308..119634691,2	MCF-7	breast:
2	chr3:119633451..119635095-chr3:119811001..119813120,2	MCF-7	breast:
3	chr3:119629935..119635391-chr3:119636173..119640969,6	MCF-7	breast:
4	chr3:119633191..119636147-chr3:119811559..119813636,2	K562	blood:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1054190	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11914561	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11915898	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11916594	0.80[EUR][1000 genomes]
rs11919783	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11923782	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11923854	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11927667	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1381841	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17204605	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17205095	0.80[EUR][1000 genomes]
rs17810302	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55644728	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55658250	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55910624	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56114552	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6765004	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68194015	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73175828	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175830	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73175844	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73175849	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73175853	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73175860	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175863	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175864	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175870	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175873	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175877	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175879	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175880	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175886	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73175888	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73175891	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73175897	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs73177904	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs73177905	0.80[EUR][1000 genomes]
rs7645180	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[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:109 , 50 per page) page: 1 2 3

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	chr3:119608000-119643600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:119608200-119639200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:119611200-119643400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:119611200-119667000	Weak transcription	Pancreas	Pancrea
8	chr3:119611400-119634600	Weak transcription	Spleen	Spleen
9	chr3:119611400-119642000	Weak transcription	Fetal Brain Male	brain
10	chr3:119611400-119649400	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
12	chr3:119613000-119637400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:119614200-119645200	Weak transcription	K562	blood
14	chr3:119618400-119639800	Weak transcription	NHLF	lung
15	chr3:119620600-119635800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:119621200-119639600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:119621800-119639000	Weak transcription	Fetal Intestine Small	intestine
18	chr3:119622200-119640800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:119624600-119642200	Weak transcription	Brain Germinal Matrix	brain
20	chr3:119624800-119635400	Weak transcription	A549	lung
21	chr3:119625000-119668200	Weak transcription	Hela-S3	cervix
22	chr3:119625800-119635600	Weak transcription	Osteobl	bone
23	chr3:119627200-119634800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:119627600-119635000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:119627800-119635200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:119627800-119640400	Weak transcription	Brain Substantia Nigra	brain
27	chr3:119628000-119636400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:119628200-119638800	Weak transcription	Aorta	Aorta
29	chr3:119628200-119643000	Weak transcription	Ovary	ovary
30	chr3:119628200-119643800	Weak transcription	Left Ventricle	heart
31	chr3:119628200-119655600	Weak transcription	Fetal Heart	heart
32	chr3:119628200-119663200	Weak transcription	Right Atrium	heart
33	chr3:119628400-119635600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:119628400-119651000	Weak transcription	Right Ventricle	heart
35	chr3:119628800-119635200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:119629400-119634800	Strong transcription	NH-A	brain
37	chr3:119629400-119635000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr3:119629600-119672200	Weak transcription	Fetal Stomach	stomach
39	chr3:119630200-119645400	Weak transcription	HUVEC	blood vessel
40	chr3:119630400-119639000	Weak transcription	Fetal Brain Female	brain
41	chr3:119630800-119635000	Strong transcription	Placenta	Placenta
42	chr3:119630800-119638000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:119630800-119663200	Weak transcription	Esophagus	oesophagus
44	chr3:119630800-119697400	Weak transcription	Thymus	Thymus
45	chr3:119631000-119635200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:119631000-119639200	Weak transcription	Fetal Intestine Large	intestine
47	chr3:119631000-119642800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr3:119631000-119644000	Weak transcription	Psoas Muscle	Psoas
49	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:119631200-119635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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