Variant report

Variant	rs72934803
Chromosome Location	chr3:50394675-50394676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50394476..50397336-chr3:50402508..50404980,5	MCF-7	breast:
2	chr3:50393040..50395333-chr3:50395913..50399520,4	MCF-7	breast:
3	chr3:50394292..50396980-chr3:50412055..50414700,2	K562	blood:
4	chr3:50392345..50395062-chr3:50577174..50579262,2	K562	blood:
5	chr3:50336850..50339118-chr3:50394186..50396156,2	K562	blood:
6	chr3:50394585..50396465-chr3:50463450..50466153,2	MCF-7	breast:
7	chr3:50374257..50376540-chr3:50394477..50397107,2	MCF-7	breast:
8	chr3:50394146..50396994-chr3:50606998..50609600,2	MCF-7	breast:
9	chr3:50394074..50395668-chr3:50400374..50402544,2	K562	blood:
10	chr3:50386112..50390194-chr3:50392847..50399521,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000114388	Chromatin interaction
ENSG00000114735	Chromatin interaction
ENSG00000088543	Chromatin interaction
ENSG00000186792	Chromatin interaction
ENSG00000243477	Chromatin interaction
ENSG00000126062	Chromatin interaction
ENSG00000007402	Chromatin interaction
ENSG00000272104	Chromatin interaction
ENSG00000114395	Chromatin interaction
ENSG00000271858	Chromatin interaction
ENSG00000068028	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12485286	0.86[AFR][1000 genomes]
rs2233482	1.00[AMR][1000 genomes]
rs58780990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59556423	1.00[AMR][1000 genomes]
rs60983897	1.00[AMR][1000 genomes]
rs61275090	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61689858	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61737738	1.00[AMR][1000 genomes]
rs72932956	1.00[AMR][1000 genomes]
rs72932962	1.00[AMR][1000 genomes]
rs72932964	1.00[AMR][1000 genomes]
rs72932983	1.00[AMR][1000 genomes]
rs72932994	0.83[AFR][1000 genomes]
rs72934806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934809	0.93[AFR][1000 genomes]
rs72934811	0.86[AFR][1000 genomes]
rs72934814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934824	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934827	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934830	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs928946	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
8	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
10	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
12	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
14	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
15	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
16	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
17	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
18	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50389000-50395000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:50391000-50394800	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:50392200-50395600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:50392400-50395000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
5	chr3:50392400-50395200	Genic enhancers	Gastric	stomach
6	chr3:50392400-50396000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:50392400-50397200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:50392600-50395000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:50392800-50395600	Genic enhancers	Spleen	Spleen
10	chr3:50392800-50395800	Genic enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:50393000-50394800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:50393000-50395000	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr3:50393000-50395000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:50393000-50395200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr3:50393000-50395800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
16	chr3:50393000-50396800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
17	chr3:50393200-50394800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:50393200-50395200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:50393200-50395400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
20	chr3:50393200-50395400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
21	chr3:50393200-50395600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:50393200-50395600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
23	chr3:50393200-50395600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
24	chr3:50393200-50395600	Transcr. at gene 5' and 3'	HSMM	muscle
25	chr3:50393200-50395800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:50393200-50395800	Flanking Active TSS	Fetal Heart	heart
27	chr3:50393200-50395800	Genic enhancers	Placenta Amnion	Placenta Amnion
28	chr3:50393200-50395800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
29	chr3:50393200-50396000	Enhancers	Small Intestine	intestine
30	chr3:50393200-50396200	Transcr. at gene 5' and 3'	NHLF	lung
31	chr3:50393200-50396400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:50393400-50394800	Genic enhancers	Primary hematopoietic stem cells	blood
33	chr3:50393400-50394800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:50393400-50395200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:50393400-50395400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
36	chr3:50393400-50395600	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:50393400-50395800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:50393400-50396000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
39	chr3:50393400-50396000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr3:50393400-50396200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:50393400-50396200	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr3:50393400-50396200	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
43	chr3:50393400-50396200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
44	chr3:50393400-50396400	Flanking Active TSS	HUVEC	blood vessel
45	chr3:50393400-50396800	Transcr. at gene 5' and 3'	Dnd41	blood
46	chr3:50393400-50397600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr3:50393600-50395200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
48	chr3:50393600-50395400	Transcr. at gene 5' and 3'	Osteobl	bone
49	chr3:50393600-50395600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:50393600-50395600	Flanking Active TSS	HSMMtube	muscle

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