Variant report

Variant	rs72967147
Chromosome Location	chr3:119579126-119579127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119576854..119579508-chr3:119585764..119588741,2	K562	blood:
2	chr3:119577746..119580043-chr3:119582834..119585503,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs57461967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57512425	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58340674	1.00[AMR][1000 genomes]
rs58533045	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58742584	1.00[AMR][1000 genomes]
rs72967103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967130	1.00[AFR][1000 genomes]
rs72967133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967181	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967186	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967191	1.00[AMR][1000 genomes]
rs72967195	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969111	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969116	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969128	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969131	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969135	1.00[AMR][1000 genomes]
rs72969142	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969149	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969170	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971006	1.00[AMR][1000 genomes]
rs72971013	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119529600-119582000	Weak transcription	Spleen	Spleen
2	chr3:119541000-119581600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:119541200-119587000	Weak transcription	Gastric	stomach
4	chr3:119542400-119581200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:119542600-119581600	Weak transcription	HUVEC	blood vessel
6	chr3:119545200-119583400	Weak transcription	Brain Angular Gyrus	brain
7	chr3:119545800-119581600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:119546000-119663400	Weak transcription	Lung	lung
9	chr3:119546400-119580400	Weak transcription	HepG2	liver
10	chr3:119548600-119581600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:119549200-119581600	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:119551400-119594600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:119551800-119580600	Weak transcription	NH-A	brain
14	chr3:119551800-119581400	Weak transcription	Osteobl	bone
15	chr3:119552200-119582000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:119561200-119581400	Weak transcription	Hela-S3	cervix
17	chr3:119561200-119581600	Weak transcription	Right Ventricle	heart
18	chr3:119561200-119581600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:119561200-119591200	Weak transcription	Stomach Mucosa	stomach
20	chr3:119562400-119611000	Weak transcription	Fetal Stomach	stomach
21	chr3:119562600-119581600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:119564000-119581800	Weak transcription	Brain Substantia Nigra	brain
23	chr3:119566000-119581600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:119566800-119586000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:119567000-119605200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:119569400-119629400	Weak transcription	Esophagus	oesophagus
27	chr3:119570200-119581600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:119570600-119580400	Weak transcription	NHDF-Ad	bronchial
29	chr3:119574600-119631600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:119574800-119581800	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:119574800-119583000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:119575000-119579400	ZNF genes & repeats	Dnd41	blood
33	chr3:119575000-119583000	Strong transcription	Fetal Thymus	thymus
34	chr3:119575000-119583400	Weak transcription	Pancreas	Pancrea
35	chr3:119575000-119583800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr3:119575000-119583800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr3:119575000-119585400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:119575000-119585800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr3:119575000-119586800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:119575000-119588000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:119575200-119579400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:119575400-119583800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:119575600-119584200	Strong transcription	Primary T cells from cord blood	blood
44	chr3:119575800-119579400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:119576000-119579400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:119576000-119579400	Strong transcription	Fetal Intestine Large	intestine
47	chr3:119576200-119581600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:119576400-119579400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr3:119576400-119580200	Strong transcription	Ovary	ovary
50	chr3:119576600-119579400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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