Variant report

Variant	rs12460619
Chromosome Location	chr19:18317241-18317242
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18312530..18319182-chr19:18329520..18338113,19	K562	blood:
2	chr19:18313916..18318092-chr19:18528402..18531529,5	K562	blood:
3	chr19:18314296..18317431-chr19:18383748..18386421,3	K562	blood:
4	chr19:18302289..18309850-chr19:18311214..18320810,23	K562	blood:
5	chr19:18316952..18321677-chr19:18390588..18394858,6	K562	blood:
6	chr19:18314296..18317366-chr19:18383748..18385809,3	K562	blood:
7	chr19:18315560..18317882-chr19:18321449..18323321,2	K562	blood:

Variant related genes	Relation type
ENSG00000130511	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000254858	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1046565	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11881258	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12461021	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12462801	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17683509	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17683539	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2049050	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2229228	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3803919	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4458132	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808768	0.92[EUR][1000 genomes]
rs55650549	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62120367	0.85[EUR][1000 genomes]
rs62120368	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62120382	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62120383	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62120385	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62120388	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62120393	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7245576	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7246274	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7249773	0.83[ASN][1000 genomes]
rs7259695	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8100626	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8104010	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8109807	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
5	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
6	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
7	nsv911248	chr19:18224729-18338101	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
10	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer 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	136 gene(s)	inside rSNPs	diseases
11	nsv911252	chr19:18234588-18338101	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
13	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
14	nsv911256	chr19:18255359-18338101	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
15	nsv911260	chr19:18288069-18386798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	nsv911263	chr19:18309365-18324329	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv911264	chr19:18309365-18369644	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18314400-18317600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:18314800-18321000	Weak transcription	Spleen	Spleen
3	chr19:18316200-18335000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:18316400-18319000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr19:18316600-18317400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:18316600-18317800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:18316600-18318600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:18316600-18318600	Weak transcription	HSMM	muscle
9	chr19:18316600-18318800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:18316600-18318800	Weak transcription	A549	lung
11	chr19:18316600-18318800	Weak transcription	HSMMtube	muscle
12	chr19:18316600-18319000	Enhancers	Fetal Stomach	stomach
13	chr19:18316600-18319000	Weak transcription	Stomach Mucosa	stomach
14	chr19:18316600-18319000	Weak transcription	Hela-S3	cervix
15	chr19:18316600-18319200	Weak transcription	Right Atrium	heart
16	chr19:18316600-18325800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:18316600-18331200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:18316800-18317400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:18316800-18317400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr19:18316800-18317400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:18316800-18317400	Enhancers	Fetal Lung	lung
22	chr19:18316800-18317400	Enhancers	Fetal Muscle Trunk	muscle
23	chr19:18316800-18317400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr19:18316800-18317400	Enhancers	K562	blood
25	chr19:18316800-18318600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr19:18316800-18318800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:18316800-18318800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:18316800-18318800	Weak transcription	Left Ventricle	heart
29	chr19:18316800-18319000	Weak transcription	Ovary	ovary
30	chr19:18316800-18319000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:18316800-18331400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:18317000-18317400	Enhancers	Brain Germinal Matrix	brain
33	chr19:18317000-18318600	Weak transcription	Osteobl	bone
34	chr19:18317000-18318800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr19:18317000-18318800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:18317000-18318800	Weak transcription	Dnd41	blood
37	chr19:18317000-18318800	Enhancers	NHLF	lung
38	chr19:18317000-18319000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:18317000-18319000	Weak transcription	Placenta	Placenta
40	chr19:18317000-18319000	Weak transcription	NH-A	brain
41	chr19:18317000-18319400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:18317000-18319400	Weak transcription	NHDF-Ad	bronchial
43	chr19:18317000-18325000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr19:18317200-18317600	Enhancers	GM12878-XiMat	blood
45	chr19:18317200-18317800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:18317200-18318800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:18317200-18318800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:18317200-18319000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr19:18317200-18319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:18317200-18319000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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