Variant report

Variant	rs60588168
Chromosome Location	chr3:119190806-119190807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119181220..119185390-chr3:119190378..119193969,7	MCF-7	breast:
2	chr3:119185648..119192167-chr3:119194088..119200916,11	MCF-7	breast:
3	chr3:119186592..119189197-chr3:119189620..119191262,2	K562	blood:
4	chr3:119185037..119191105-chr3:119214944..119221331,23	MCF-7	breast:
5	chr3:119185641..119191138-chr3:119214841..119219392,9	MCF-7	breast:
6	chr3:119173608..119175156-chr3:119189458..119191935,2	K562	blood:

Variant related genes	Relation type
ENSG00000272662	Chromatin interaction
ENSG00000113845	Chromatin interaction
ENSG00000176142	Chromatin interaction
ENSG00000163389	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1132202	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11556604	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12631504	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12639070	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16829809	0.95[EUR][1000 genomes]
rs17281612	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17281647	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17281703	0.83[EUR][1000 genomes]
rs2282173	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2282175	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57509340	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58968288	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59333081	0.93[EUR][1000 genomes]
rs59551807	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60375691	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60671082	0.87[AMR][1000 genomes]
rs61740281	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6772534	0.94[EUR][1000 genomes]
rs6782411	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6800924	0.94[EUR][1000 genomes]
rs72968474	0.94[EUR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats 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 target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119188400-119216200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:119188400-119216800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:119188600-119198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:119188600-119216200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:119188800-119196200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:119188800-119216200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:119189000-119192200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:119189000-119193600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:119189000-119196000	Weak transcription	Small Intestine	intestine
10	chr3:119189000-119196600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:119189000-119196800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:119189000-119197000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:119189000-119198000	Weak transcription	HSMM	muscle
14	chr3:119189000-119198200	Weak transcription	NH-A	brain
15	chr3:119189000-119199200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:119189000-119204400	Weak transcription	NHDF-Ad	bronchial
17	chr3:119189000-119216200	Weak transcription	Stomach Mucosa	stomach
18	chr3:119189000-119216200	Weak transcription	HUVEC	blood vessel
19	chr3:119189000-119216600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:119189200-119196000	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:119189200-119199000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:119189200-119199600	Weak transcription	HMEC	breast
23	chr3:119189200-119203000	Weak transcription	Fetal Kidney	kidney
24	chr3:119189400-119201800	Strong transcription	Fetal Stomach	stomach
25	chr3:119189600-119191000	Strong transcription	Brain Hippocampus Middle	brain
26	chr3:119189600-119191000	Strong transcription	NHEK	skin
27	chr3:119189600-119191800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:119189600-119192000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:119189600-119192400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr3:119189600-119192800	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:119189600-119193600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:119189600-119205400	Weak transcription	Hela-S3	cervix
33	chr3:119189600-119209200	Strong transcription	Primary B cells from cord blood	blood
34	chr3:119189600-119211800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr3:119189600-119211800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr3:119189800-119191000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr3:119189800-119191200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:119189800-119191200	Strong transcription	Fetal Muscle Leg	muscle
39	chr3:119189800-119192000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr3:119189800-119192000	Strong transcription	Primary T cells from cord blood	blood
41	chr3:119189800-119192000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr3:119189800-119192000	Strong transcription	Fetal Brain Female	brain
43	chr3:119189800-119192200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:119189800-119192200	Strong transcription	Brain Cingulate Gyrus	brain
45	chr3:119189800-119192400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:119189800-119192600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr3:119189800-119193000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:119189800-119194200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr3:119189800-119194400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:119189800-119198800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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