Variant report

Variant	rs2233482
Chromosome Location	chr3:50386710-50386711
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:50386687-50389553	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:50386388-50387620	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:50386691-50389526	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:50386585-50386732	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50386112..50390194-chr3:50392847..50399521,11	MCF-7	breast:

Variant related genes	Relation type
CYB561D2	TF binding region
ZMYND10	TF binding region
NPRL2	TF binding region
ENSG00000272104	TF binding region
ENSG00000126062	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12490837	0.89[AFR][1000 genomes]
rs2229647	0.91[AFR][1000 genomes]
rs2233476	0.97[AFR][1000 genomes]
rs35587949	0.94[AFR][1000 genomes]
rs4688679	0.97[AFR][1000 genomes]
rs4688728	0.94[AFR][1000 genomes]
rs4688736	0.91[AFR][1000 genomes]
rs58780990	1.00[AMR][1000 genomes]
rs59476380	0.91[AFR][1000 genomes]
rs59556423	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60983897	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61275090	1.00[AMR][1000 genomes]
rs61689858	1.00[AMR][1000 genomes]
rs61737738	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932956	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932983	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934803	1.00[AMR][1000 genomes]
rs72934806	1.00[AMR][1000 genomes]
rs72934814	1.00[AMR][1000 genomes]
rs72934815	1.00[AMR][1000 genomes]
rs72934824	1.00[AMR][1000 genomes]
rs72934827	1.00[AMR][1000 genomes]
rs72934830	1.00[AMR][1000 genomes]
rs928946	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv590254	chr3:50243510-50388607	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	nsv590257	chr3:50302830-50393640	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	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
20	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50379000-50386800	Weak transcription	Small Intestine	intestine
2	chr3:50383400-50386800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:50383400-50386800	Weak transcription	Left Ventricle	heart
4	chr3:50383400-50387600	Weak transcription	Aorta	Aorta
5	chr3:50383600-50386800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:50383600-50386800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:50383600-50386800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:50383600-50386800	Weak transcription	Psoas Muscle	Psoas
9	chr3:50383600-50386800	Weak transcription	Right Atrium	heart
10	chr3:50383600-50387000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:50383600-50387000	Weak transcription	HSMM	muscle
12	chr3:50383600-50387000	Weak transcription	NH-A	brain
13	chr3:50383600-50387200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:50383600-50387200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:50383600-50387200	Weak transcription	HMEC	breast
16	chr3:50383600-50387200	Weak transcription	HSMMtube	muscle
17	chr3:50383600-50387200	Weak transcription	HUVEC	blood vessel
18	chr3:50383600-50387200	Weak transcription	K562	blood
19	chr3:50383800-50387600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:50384200-50386800	Weak transcription	Fetal Heart	heart
21	chr3:50384200-50387200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:50384200-50387400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:50384800-50386800	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr3:50384800-50386800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr3:50384800-50387000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr3:50384800-50387000	Genic enhancers	Fetal Muscle Leg	muscle
27	chr3:50384800-50387200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:50384800-50387200	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr3:50385000-50386800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:50385000-50386800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:50385000-50386800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:50385000-50386800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:50385000-50386800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:50385000-50386800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:50385000-50386800	Strong transcription	Fetal Intestine Large	intestine
36	chr3:50385000-50386800	Strong transcription	Ovary	ovary
37	chr3:50385000-50386800	Genic enhancers	Pancreas	Pancrea
38	chr3:50385000-50386800	Strong transcription	Rectal Smooth Muscle	rectum
39	chr3:50385000-50386800	Genic enhancers	Stomach Smooth Muscle	stomach
40	chr3:50385000-50386800	Strong transcription	Thymus	Thymus
41	chr3:50385000-50387000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:50385000-50387000	Genic enhancers	Spleen	Spleen
43	chr3:50385000-50387200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr3:50385000-50387200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:50385000-50387200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:50385000-50387200	Weak transcription	Hela-S3	cervix
47	chr3:50385200-50386800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:50385200-50386800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:50385200-50386800	Strong transcription	Brain Substantia Nigra	brain
50	chr3:50385200-50386800	Genic enhancers	Fetal Brain Female	brain

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