Variant report

Variant	rs62121158
Chromosome Location	chr19:18216101-18216102
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	RFX5	chr19:18213633-18216347	IMR90	lung:	n/a	chr19:18215372-18215381 chr19:18215368-18215383 chr19:18215369-18215383 chr19:18215371-18215386 chr19:18215371-18215386
2	RFX5	chr19:18213577-18217211	SK-N-SH	brain:	n/a	chr19:18215372-18215381 chr19:18215368-18215383 chr19:18215369-18215383 chr19:18215371-18215386 chr19:18215371-18215386

No.	Distal block	Cell Line	Cell type
1	chr19:18215138..18216766-chr19:18223836..18225347,2	MCF-7	breast:
2	chr19:18207064..18208834-chr19:18213992..18216646,2	MCF-7	breast:
3	chr19:18214257..18217360-chr19:18228399..18230348,3	MCF-7	breast:
4	chr19:18185895..18188337-chr19:18214059..18216560,2	K562	blood:

Variant related genes	Relation type
MAST3	TF binding region
ENSG00000099308	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11086089	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11665905	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11667112	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11667917	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11670228	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11672366	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11673702	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs273496	0.84[EUR][1000 genomes]
rs273503	0.89[EUR][1000 genomes]
rs273504	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs273505	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs273506	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs273508	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs273512	0.84[EUR][1000 genomes]
rs4808746	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56971820	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58049250	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62121155	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62123561	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7249862	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats 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	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv911241	chr19:18193191-18304700	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv911242	chr19:18201757-18304700	Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv911243	chr19:18206681-18283501	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv911244	chr19:18206681-18304700	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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 target site	37 gene(s)	inside rSNPs	diseases
12	nsv833774	chr19:18213761-18295329	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18215600-18216600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:18215600-18219600	Weak transcription	Gastric	stomach
3	chr19:18215600-18220400	Weak transcription	Esophagus	oesophagus
4	chr19:18215600-18220400	Weak transcription	Lung	lung
5	chr19:18215800-18216200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr19:18215800-18216200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:18215800-18216400	Enhancers	Brain Hippocampus Middle	brain
8	chr19:18215800-18216600	Enhancers	Brain Angular Gyrus	brain
9	chr19:18215800-18218200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:18215800-18219200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:18215800-18219400	Weak transcription	Hela-S3	cervix
12	chr19:18215800-18219400	Weak transcription	K562	blood
13	chr19:18215800-18219600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:18215800-18219600	Weak transcription	Brain Substantia Nigra	brain
15	chr19:18215800-18219600	Weak transcription	Colonic Mucosa	Colon
16	chr19:18215800-18219600	Weak transcription	Pancreas	Pancrea
17	chr19:18215800-18219600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:18215800-18219600	Weak transcription	Stomach Mucosa	stomach
19	chr19:18215800-18219600	Weak transcription	A549	lung
20	chr19:18215800-18219800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:18215800-18219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:18215800-18219800	Weak transcription	Brain Anterior Caudate	brain
23	chr19:18215800-18220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:18215800-18220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:18215800-18220000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr19:18215800-18220200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:18215800-18220200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr19:18215800-18220200	Weak transcription	Right Atrium	heart
29	chr19:18215800-18220200	Weak transcription	HSMMtube	muscle
30	chr19:18215800-18220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:18215800-18220400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:18215800-18220400	Enhancers	Primary B cells from peripheral blood	blood
33	chr19:18215800-18220400	Weak transcription	Primary T cells from cord blood	blood
34	chr19:18215800-18220400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:18215800-18220400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:18215800-18220400	Weak transcription	Fetal Heart	heart
37	chr19:18215800-18220400	Weak transcription	Ovary	ovary
38	chr19:18215800-18220400	Weak transcription	HMEC	breast
39	chr19:18215800-18220400	Weak transcription	HSMM	muscle
40	chr19:18215800-18220400	Weak transcription	NHLF	lung
41	chr19:18215800-18220400	Weak transcription	Osteobl	bone
42	chr19:18215800-18220600	Enhancers	Primary B cells from cord blood	blood
43	chr19:18216000-18216200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr19:18216000-18216200	Enhancers	Adipose Nuclei	Adipose
45	chr19:18216000-18217800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:18216000-18218000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr19:18216000-18218000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr19:18216000-18218000	Weak transcription	Fetal Intestine Small	intestine
49	chr19:18216000-18218000	Weak transcription	Fetal Thymus	thymus
50	chr19:18216000-18218000	Weak transcription	GM12878-XiMat	blood

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