Variant report

Variant	rs6512246
Chromosome Location	chr19:18219792-18219793
allele	A/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	MTA3	chr19:18219785-18220612	GM12878	blood:	n/a	n/a
2	HNF4G	chr19:18219681-18220639	HepG2	liver:	n/a	chr19:18220256-18220271 chr19:18220257-18220270 chr19:18220256-18220271 chr19:18220257-18220269 chr19:18220257-18220269 chr19:18220256-18220271
3	POLR2A	chr19:18219712-18219831	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18212757..18214492-chr19:18218633..18220629,2	MCF-7	breast:
2	chr19:18207114..18212211-chr19:18216815..18222515,8	K562	blood:
3	chr19:18218520..18220577-chr19:18390459..18392141,2	K562	blood:
4	chr19:18218465..18220344-chr19:18262421..18265110,2	MCF-7	breast:
5	chr19:18206855..18210303-chr19:18216702..18222515,7	K562	blood:
6	chr19:18218810..18222219-chr19:18263257..18265639,4	K562	blood:
7	chr19:18060053..18061688-chr19:18218502..18220719,2	K562	blood:
8	chr19:18219638..18222219-chr19:18263591..18265639,2	K562	blood:

Variant related genes	Relation type
MAST3	TF binding region
ENSG00000099308	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000096996	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000269145	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10451485	1.00[EUR][1000 genomes]
rs11555958	1.00[EUR][1000 genomes]
rs11880673	1.00[EUR][1000 genomes]
rs11881620	1.00[EUR][1000 genomes]
rs17882031	1.00[EUR][1000 genomes]
rs431777	1.00[EUR][1000 genomes]
rs437698	1.00[EUR][1000 genomes]
rs57757608	1.00[EUR][1000 genomes]
rs58749284	1.00[EUR][1000 genomes]
rs60146811	0.80[AFR][1000 genomes]
rs66464318	0.83[AFR][1000 genomes]
rs67234314	0.83[AFR][1000 genomes]
rs7253479	1.00[EUR][1000 genomes]
rs7255121	1.00[EUR][1000 genomes]
rs7256004	1.00[EUR][1000 genomes]
rs8102661	1.00[EUR][1000 genomes]
rs8103073	1.00[EUR][1000 genomes]
rs8103555	1.00[EUR][1000 genomes]
rs8107327	1.00[EUR][1000 genomes]
rs8111135	1.00[EUR][1000 genomes]
rs845379	1.00[EUR][1000 genomes]
rs9749302	1.00[EUR][1000 genomes]
rs9989677	1.00[EUR][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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18215600-18220400	Weak transcription	Esophagus	oesophagus
2	chr19:18215600-18220400	Weak transcription	Lung	lung
3	chr19:18215800-18219800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:18215800-18219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:18215800-18219800	Weak transcription	Brain Anterior Caudate	brain
6	chr19:18215800-18220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:18215800-18220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr19:18215800-18220000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:18215800-18220200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:18215800-18220200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:18215800-18220200	Weak transcription	Right Atrium	heart
12	chr19:18215800-18220200	Weak transcription	HSMMtube	muscle
13	chr19:18215800-18220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:18215800-18220400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:18215800-18220400	Enhancers	Primary B cells from peripheral blood	blood
16	chr19:18215800-18220400	Weak transcription	Primary T cells from cord blood	blood
17	chr19:18215800-18220400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr19:18215800-18220400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:18215800-18220400	Weak transcription	Fetal Heart	heart
20	chr19:18215800-18220400	Weak transcription	Ovary	ovary
21	chr19:18215800-18220400	Weak transcription	HMEC	breast
22	chr19:18215800-18220400	Weak transcription	HSMM	muscle
23	chr19:18215800-18220400	Weak transcription	NHLF	lung
24	chr19:18215800-18220400	Weak transcription	Osteobl	bone
25	chr19:18215800-18220600	Enhancers	Primary B cells from cord blood	blood
26	chr19:18216000-18219800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:18216000-18219800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr19:18216000-18219800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:18216000-18219800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr19:18216000-18219800	Weak transcription	Placenta	Placenta
31	chr19:18216000-18219800	Weak transcription	Spleen	Spleen
32	chr19:18216000-18220000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:18216000-18220000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:18216000-18220200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr19:18216000-18220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:18216000-18220200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:18216000-18220400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:18216000-18220400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr19:18216000-18220400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:18216000-18220600	Weak transcription	Aorta	Aorta
41	chr19:18216200-18220000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:18216200-18220000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr19:18216400-18219800	Weak transcription	Brain Hippocampus Middle	brain
44	chr19:18216600-18220000	Weak transcription	Brain Angular Gyrus	brain
45	chr19:18218000-18219800	Enhancers	Fetal Intestine Small	intestine
46	chr19:18218000-18220200	Enhancers	Primary hematopoietic stem cells	blood
47	chr19:18218000-18220200	Enhancers	GM12878-XiMat	blood
48	chr19:18218000-18220400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr19:18218000-18220400	Enhancers	Fetal Thymus	thymus
50	chr19:18218000-18220600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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