Variant report

Variant	rs1055150
Chromosome Location	chr19:18499784-18499785
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18495380..18498103-chr19:18498509..18501527,5	MCF-7	breast:
2	chr19:18439705..18442519-chr19:18499227..18501058,2	MCF-7	breast:
3	chr19:18302811..18308329-chr19:18497869..18501422,5	K562	blood:
4	chr19:18383403..18386564-chr19:18499646..18503057,3	K562	blood:
5	chr19:18384556..18386370-chr19:18499245..18501146,2	K562	blood:
6	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
7	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
8	chr19:18370992..18373477-chr19:18497994..18500594,3	K562	blood:
9	chr19:18413020..18415467-chr19:18499655..18501302,2	MCF-7	breast:
10	chr19:18498918..18499830-chr19:18529869..18530453,2	K562	blood:
11	chr19:18495627..18501937-chr19:18519170..18524838,12	K562	blood:
12	chr19:18366386..18369590-chr19:18499675..18502630,3	K562	blood:
13	chr19:18401875..18403454-chr19:18498375..18500972,2	K562	blood:
14	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
15	chr19:18466710..18468644-chr19:18498710..18500575,2	K562	blood:
16	chr19:18499327..18502884-chr19:18515787..18519149,4	K562	blood:
17	chr19:18494076..18504244-chr19:18508099..18514509,16	MCF-7	breast:
18	chr19:18389744..18391956-chr19:18498047..18500341,2	MCF-7	breast:
19	chr19:18497921..18500338-chr19:18535616..18537236,2	K562	blood:
20	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
21	chr19:18432124..18435327-chr19:18497848..18502091,4	K562	blood:
22	chr19:18448228..18453626-chr19:18495351..18501647,22	K562	blood:
23	chr19:18458959..18461482-chr19:18499425..18502890,3	K562	blood:
24	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221167	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000175489	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1059519	0.95[ASN][1000 genomes]
rs11881403	0.83[EUR][1000 genomes]
rs12459566	0.97[ASN][1000 genomes]
rs12459782	0.95[ASN][1000 genomes]
rs2059039	0.92[ASN][1000 genomes]
rs3787023	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3848646	0.97[ASN][1000 genomes]
rs3848647	0.93[ASN][1000 genomes]
rs3848648	0.85[ASN][1000 genomes]
rs3848649	0.91[ASN][1000 genomes]
rs4328570	0.91[ASN][1000 genomes]
rs4808128	0.87[ASN][1000 genomes]
rs4808792	0.92[ASN][1000 genomes]
rs4808793	0.94[ASN][1000 genomes]
rs4808794	0.93[ASN][1000 genomes]
rs55947999	0.94[ASN][1000 genomes]
rs56033872	0.94[ASN][1000 genomes]
rs6512262	0.92[ASN][1000 genomes]
rs6512263	0.91[ASN][1000 genomes]
rs6512264	0.82[ASN][1000 genomes]
rs6512265	0.91[ASN][1000 genomes]
rs6512266	0.96[ASN][1000 genomes]
rs7251610	0.87[ASN][1000 genomes]
rs8101804	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers 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	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv2430	chr19:18496428-18514937	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
10	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18497000-18499800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:18497600-18500600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:18497800-18499800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr19:18498000-18499800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr19:18498000-18499800	Active TSS	Rectal Smooth Muscle	rectum
6	chr19:18498400-18499800	Flanking Active TSS	Colonic Mucosa	Colon
7	chr19:18498400-18500200	Enhancers	Stomach Mucosa	stomach
8	chr19:18498600-18499800	Bivalent/Poised TSS	NHEK	skin
9	chr19:18498800-18499800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:18498800-18499800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:18498800-18499800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
12	chr19:18498800-18499800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:18498800-18499800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr19:18498800-18499800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
15	chr19:18498800-18499800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:18498800-18499800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:18498800-18499800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:18498800-18499800	Active TSS	Colon Smooth Muscle	Colon
19	chr19:18498800-18499800	Enhancers	Fetal Heart	heart
20	chr19:18498800-18499800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
21	chr19:18498800-18499800	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr19:18498800-18499800	Transcr. at gene 5' and 3'	HepG2	liver
23	chr19:18498800-18499800	Flanking Active TSS	NH-A	brain
24	chr19:18499000-18499800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr19:18499000-18499800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr19:18499000-18499800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:18499000-18499800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr19:18499000-18499800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
29	chr19:18499000-18499800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr19:18499000-18499800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr19:18499000-18499800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr19:18499000-18499800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:18499000-18499800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:18499000-18499800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:18499000-18499800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr19:18499000-18499800	Active TSS	Brain Anterior Caudate	brain
37	chr19:18499000-18499800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr19:18499000-18499800	Enhancers	Esophagus	oesophagus
39	chr19:18499000-18499800	Transcr. at gene 5' and 3'	Lung	lung
40	chr19:18499000-18499800	Transcr. at gene 5' and 3'	Pancreas	Pancrea
41	chr19:18499000-18499800	Flanking Active TSS	Right Ventricle	heart
42	chr19:18499000-18499800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr19:18499000-18500000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr19:18499000-18500000	Flanking Bivalent TSS/Enh	Dnd41	blood
45	chr19:18499000-18500400	Genic enhancers	Spleen	Spleen
46	chr19:18499000-18501000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:18499200-18499800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:18499200-18499800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr19:18499200-18499800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr19:18499200-18499800	Enhancers	Primary B cells from cord blood	blood

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