Variant report

Variant	rs12459449
Chromosome Location	chr19:18227848-18227849
allele	A/C
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18227326..18231361-chr19:18269226..18272590,3	MCF-7	breast:
2	chr19:18226813..18230040-chr19:18231036..18235239,5	MCF-7	breast:
3	chr19:18226387..18229032-chr19:18240169..18241788,2	K562	blood:
4	chr19:18227726..18229617-chr19:18433548..18436318,2	K562	blood:
5	chr19:18227630..18230572-chr19:18230965..18237088,9	K562	blood:
6	chr19:18227532..18230365-chr19:18238689..18243029,3	K562	blood:
7	chr19:18057341..18060009-chr19:18227603..18230383,4	K562	blood:
8	chr19:18226626..18231621-chr19:18270177..18272430,5	K562	blood:
9	chr19:18208981..18212073-chr19:18226355..18230171,3	K562	blood:
10	chr19:18227762..18230364-chr19:18242622..18244153,2	K562	blood:
11	chr19:18222052..18223818-chr19:18225368..18228034,2	K562	blood:
12	chr19:18226689..18233128-chr19:18261137..18272674,17	K562	blood:
13	chr19:18227170..18229249-chr19:18263551..18266118,3	MCF-7	breast:
14	chr19:18213855..18215840-chr19:18226802..18229759,2	K562	blood:
15	chr19:18223950..18226906-chr19:18227194..18230547,6	K562	blood:
16	chr19:18226691..18231532-chr19:18258960..18265353,9	MCF-7	breast:
17	chr19:18226427..18233128-chr19:18260600..18269360,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000096996	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000269145	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000105647	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11086090	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11086092	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11086093	0.82[EUR][1000 genomes]
rs12052062	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12460262	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12460575	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461029	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12462442	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12609740	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12610206	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12611216	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3826967	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs45492191	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60963202	0.83[EUR][1000 genomes]
rs62121153	0.83[EUR][1000 genomes]
rs62121154	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62123563	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62123564	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62123565	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123566	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123567	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62123569	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123598	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62123599	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62123601	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62123602	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62123603	0.87[EUR][1000 genomes]
rs62123604	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62123605	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62123606	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62123608	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs740692	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs740693	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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
14	esv1834142	chr19:18224729-18234588	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
15	nsv911246	chr19:18224729-18283501	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS 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 target site	25 gene(s)	inside rSNPs	diseases
16	nsv911247	chr19:18224729-18288069	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18221600-18228000	Weak transcription	Ovary	ovary
2	chr19:18221600-18228200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:18221600-18228200	Weak transcription	Left Ventricle	heart
4	chr19:18221800-18228000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:18221800-18228000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:18221800-18228000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:18221800-18228200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:18221800-18228200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:18221800-18228200	Weak transcription	Right Atrium	heart
10	chr19:18221800-18228200	Weak transcription	HMEC	breast
11	chr19:18221800-18228200	Weak transcription	NHLF	lung
12	chr19:18221800-18228400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:18222000-18228000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:18222000-18228000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:18222000-18228200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:18222000-18228200	Weak transcription	Right Ventricle	heart
17	chr19:18222000-18228200	Weak transcription	NHDF-Ad	bronchial
18	chr19:18222200-18228000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:18222400-18228000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:18222400-18228000	Weak transcription	Stomach Mucosa	stomach
21	chr19:18222600-18228000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr19:18223000-18228200	Weak transcription	HSMMtube	muscle
23	chr19:18224000-18228000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr19:18224000-18228000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:18224000-18228000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:18224000-18228200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr19:18224000-18228200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:18224000-18228200	Weak transcription	A549	lung
29	chr19:18224000-18228200	Weak transcription	HepG2	liver
30	chr19:18224200-18228000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:18224200-18228000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr19:18224200-18228000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
33	chr19:18224200-18228000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr19:18224200-18228200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:18224600-18228000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:18224600-18228000	Weak transcription	NHEK	skin
37	chr19:18225000-18228200	Weak transcription	Lung	lung
38	chr19:18226400-18228000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:18226400-18228000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:18226600-18228200	Weak transcription	Gastric	stomach
41	chr19:18226800-18228000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:18226800-18228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:18226800-18228000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:18226800-18228000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:18226800-18228000	Weak transcription	Fetal Intestine Large	intestine
46	chr19:18226800-18228000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:18226800-18228000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr19:18226800-18228000	Weak transcription	GM12878-XiMat	blood
49	chr19:18226800-18228000	Weak transcription	Osteobl	bone
50	chr19:18226800-18228200	Weak transcription	Primary T cells from cord blood	blood

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