Variant report

Variant	rs385162
Chromosome Location	chr19:53140693-53140694
allele	A/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	chr19:53140111-53142148	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:53140652-53141971	GM12891	blood:	n/a	n/a
3	POLR2A	chr19:53140135-53142012	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:53140366-53142176	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:53140421-53141697	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:53139933-53142093	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:53140485-53140727	GM12878	blood:	n/a	n/a
8	HEY1	chr19:53140110-53140804	K562	blood:	n/a	n/a
9	POLR2A	chr19:53140028-53140709	K562	blood:	n/a	n/a
10	MAZ	chr19:53140640-53142408	IMR90	lung:	n/a	chr19:53141729-53141739 chr19:53141661-53141671
11	POLR2A	chr19:53140397-53142088	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53139623..53144311-chr19:53192220..53194807,4	MCF-7	breast:
2	chr19:53140133..53142689-chr19:53604558..53606639,2	MCF-7	breast:

Variant related genes	Relation type
ZNF83	TF binding region
ENSG00000170949	Chromatin interaction
ENSG00000167766	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1089757	0.85[ASN][1000 genomes]
rs1089758	0.85[ASN][1000 genomes]
rs1089762	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs170671	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs193411	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs329950	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs329957	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs390157	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs410854	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs423403	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs672333	0.84[ASN][1000 genomes]
rs73586156	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv912305	chr19:53092465-53349850	Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv912306	chr19:53092465-53400760	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv912307	chr19:53092465-53433054	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv912308	chr19:53092465-53436337	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv912309	chr19:53092465-53440653	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv912311	chr19:53103875-53212361	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv912312	chr19:53103875-53296371	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv912313	chr19:53103875-53436337	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv912314	chr19:53105547-53144082	Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv912315	chr19:53105547-53149967	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv912316	chr19:53105547-53158023	Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv912317	chr19:53105547-53440653	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv1066762	chr19:53112568-53552217	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv912318	chr19:53118278-53451291	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
18	nsv458744	chr19:53120559-53236331	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
19	nsv580028	chr19:53120559-53236331	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
20	esv3489404	chr19:53121944-53391394	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
21	esv3489405	chr19:53121944-53391394	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
22	nsv1066876	chr19:53123577-53157096	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv580029	chr19:53137583-53164172	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53121200-53140800	Weak transcription	HSMMtube	muscle
2	chr19:53121600-53140800	Weak transcription	Brain Angular Gyrus	brain
3	chr19:53127000-53140800	Weak transcription	Ovary	ovary
4	chr19:53129200-53140800	Weak transcription	Small Intestine	intestine
5	chr19:53130000-53140800	Weak transcription	Aorta	Aorta
6	chr19:53130400-53140800	Weak transcription	Left Ventricle	heart
7	chr19:53130600-53140800	Weak transcription	Fetal Brain Female	brain
8	chr19:53130600-53140800	Weak transcription	Psoas Muscle	Psoas
9	chr19:53137800-53140800	Weak transcription	Fetal Intestine Large	intestine
10	chr19:53138400-53140800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:53139800-53142000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:53140000-53140800	Enhancers	Lung	lung
13	chr19:53140000-53140800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr19:53140200-53140800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr19:53140200-53140800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr19:53140200-53140800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr19:53140200-53140800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:53140200-53140800	Enhancers	Brain Germinal Matrix	brain
19	chr19:53140200-53140800	Enhancers	HepG2	liver
20	chr19:53140200-53140800	Enhancers	NHDF-Ad	bronchial
21	chr19:53140200-53141200	Flanking Active TSS	Dnd41	blood
22	chr19:53140200-53142000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:53140200-53142000	Active TSS	GM12878-XiMat	blood
24	chr19:53140400-53140800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:53140400-53140800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:53140400-53140800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:53140400-53140800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:53140400-53140800	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr19:53140400-53140800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr19:53140400-53140800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:53140400-53140800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:53140400-53140800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr19:53140400-53140800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:53140400-53140800	Enhancers	Brain Anterior Caudate	brain
35	chr19:53140400-53140800	Enhancers	Brain Substantia Nigra	brain
36	chr19:53140400-53140800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr19:53140400-53140800	Enhancers	Placenta	Placenta
38	chr19:53140400-53140800	Enhancers	Pancreas	Pancrea
39	chr19:53140400-53140800	Enhancers	Right Atrium	heart
40	chr19:53140400-53140800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr19:53140400-53140800	Enhancers	Stomach Mucosa	stomach
42	chr19:53140400-53140800	Flanking Active TSS	NHLF	lung
43	chr19:53140400-53141000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr19:53140400-53141000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr19:53140400-53141000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr19:53140400-53141000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:53140400-53141000	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr19:53140400-53141000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr19:53140400-53141000	Flanking Active TSS	Fetal Lung	lung
50	chr19:53140400-53141000	Enhancers	Spleen	Spleen

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