Variant report

Variant	rs72934815
Chromosome Location	chr3:50406789-50406790
allele	C/T
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	BHLHE40	chr3:50406489-50406841	K562	blood:	n/a	n/a
2	MAX	chr3:50406460-50406836	K562	blood:	n/a	n/a
3	EGR1	chr3:50406758-50406970	K562	blood:	n/a	chr3:50406853-50406863

No.	Distal block	Cell Line	Cell type
1	chr3:50405624..50407617-chr3:50410447..50413698,3	K562	blood:
2	chr3:50395602..50397170-chr3:50405064..50407800,2	MCF-7	breast:
3	chr3:50395175..50398568-chr3:50405872..50408307,3	K562	blood:
4	chr3:50406050..50408278-chr3:50414386..50416245,2	MCF-7	breast:

Variant related genes	Relation type
CACNA2D2	TF binding region
ENSG00000126062	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]
rs72934803	1.00[AFR][1000 genomes];1.00[AMR][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]
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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50403200-50408000	Weak transcription	Brain Angular Gyrus	brain
2	chr3:50403200-50408000	Weak transcription	Fetal Heart	heart
3	chr3:50403200-50408400	Weak transcription	Fetal Lung	lung
4	chr3:50403200-50417200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:50403400-50408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:50403400-50408000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:50403400-50408400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:50403400-50410000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:50403600-50408400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:50403800-50406800	Weak transcription	Stomach Mucosa	stomach
11	chr3:50403800-50407000	Enhancers	Fetal Muscle Leg	muscle
12	chr3:50403800-50407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:50403800-50408400	Weak transcription	Fetal Stomach	stomach
14	chr3:50403800-50409600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:50403800-50409600	Weak transcription	Fetal Intestine Small	intestine
16	chr3:50403800-50409800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:50403800-50409800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:50403800-50410000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:50404000-50409400	Weak transcription	Fetal Thymus	thymus
20	chr3:50404000-50409800	Weak transcription	Thymus	Thymus
21	chr3:50404200-50408000	Weak transcription	Fetal Brain Female	brain
22	chr3:50404200-50410600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:50404400-50407400	Weak transcription	Brain Germinal Matrix	brain
24	chr3:50404600-50409800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr3:50404600-50410000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:50404600-50415400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:50404800-50407400	Weak transcription	Pancreas	Pancrea
28	chr3:50405000-50409800	Weak transcription	Primary T cells from cord blood	blood
29	chr3:50405000-50416400	Weak transcription	Gastric	stomach
30	chr3:50405200-50407400	Weak transcription	Lung	lung
31	chr3:50405200-50409800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr3:50405600-50407200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:50405600-50409800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:50405600-50410000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr3:50405800-50407200	Enhancers	HMEC	breast
36	chr3:50405800-50411200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:50406000-50407000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:50406000-50411000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:50406400-50407000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:50406400-50407000	Enhancers	K562	blood
41	chr3:50406600-50406800	Enhancers	Spleen	Spleen

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