Variant report

Variant	rs62123565
Chromosome Location	chr19:18225756-18225757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18220749..18223552-chr19:18225120..18226868,2	K562	blood:
2	chr19:18222052..18223818-chr19:18225368..18228034,2	K562	blood:
3	chr19:18223950..18226906-chr19:18227194..18230547,6	K562	blood:

Variant related genes	Relation type
ENSG00000099308	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	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11086092	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11086093	0.82[EUR][1000 genomes]
rs12052062	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12459449	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12460262	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12460575	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461029	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12462442	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12609740	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12610206	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12611216	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3826967	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs45492191	0.85[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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62123564	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62123566	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123567	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62123569	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123598	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62123599	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62123601	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62123602	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62123603	0.87[EUR][1000 genomes]
rs62123604	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62123605	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62123606	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62123608	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs740692	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs740693	0.92[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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18221600-18226000	Weak transcription	Aorta	Aorta
2	chr19:18221600-18228000	Weak transcription	Ovary	ovary
3	chr19:18221600-18228200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:18221600-18228200	Weak transcription	Left Ventricle	heart
5	chr19:18221800-18226000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr19:18221800-18226400	Weak transcription	Osteobl	bone
7	chr19:18221800-18227800	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:18221800-18228000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:18221800-18228000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:18221800-18228000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:18221800-18228200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:18221800-18228200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:18221800-18228200	Weak transcription	Right Atrium	heart
14	chr19:18221800-18228200	Weak transcription	HMEC	breast
15	chr19:18221800-18228200	Weak transcription	NHLF	lung
16	chr19:18221800-18228400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:18222000-18228000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:18222000-18228000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:18222000-18228200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:18222000-18228200	Weak transcription	Right Ventricle	heart
21	chr19:18222000-18228200	Weak transcription	NHDF-Ad	bronchial
22	chr19:18222200-18227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:18222200-18227800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:18222200-18227800	Weak transcription	Thymus	Thymus
25	chr19:18222200-18228000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr19:18222400-18228000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr19:18222400-18228000	Weak transcription	Stomach Mucosa	stomach
28	chr19:18222600-18228000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr19:18223000-18226000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:18223000-18228200	Weak transcription	HSMMtube	muscle
31	chr19:18223800-18225800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:18223800-18226800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:18224000-18226400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:18224000-18227800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:18224000-18227800	Weak transcription	Placenta	Placenta
36	chr19:18224000-18227800	Weak transcription	Fetal Thymus	thymus
37	chr19:18224000-18227800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:18224000-18227800	Weak transcription	Hela-S3	cervix
39	chr19:18224000-18227800	Weak transcription	K562	blood
40	chr19:18224000-18228000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr19:18224000-18228000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:18224000-18228000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:18224000-18228200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr19:18224000-18228200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:18224000-18228200	Weak transcription	A549	lung
46	chr19:18224000-18228200	Weak transcription	HepG2	liver
47	chr19:18224200-18225800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:18224200-18226200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:18224200-18226800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr19:18224200-18226800	Strong transcription	Fetal Intestine Large	intestine

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