Variant report

Variant	rs16982427
Chromosome Location	chr19:18576514-18576515
allele	A/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18573630..18576547-chr19:18700446..18702427,2	K562	blood:
2	chr19:18575464..18579063-chr19:18579227..18581262,3	MCF-7	breast:
3	chr19:18568659..18571557-chr19:18575200..18577928,3	K562	blood:
4	chr19:18546700..18549540-chr19:18575165..18577449,2	MCF-7	breast:
5	chr19:18575653..18580587-chr19:18588169..18591423,6	K562	blood:
6	chr19:18527968..18530856-chr19:18575809..18578899,3	MCF-7	breast:
7	chr19:18575799..18578252-chr19:18699046..18700945,3	MCF-7	breast:
8	chr19:18572950..18574996-chr19:18575844..18577485,2	K562	blood:
9	chr19:18575537..18577435-chr19:18595823..18598697,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105655	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000130511	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11574806	0.87[EUR][1000 genomes]
rs16982418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16982429	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16982485	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2314669	0.87[EUR][1000 genomes]
rs34078075	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34868531	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35328461	1.00[EUR][1000 genomes]
rs58410315	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58604797	1.00[EUR][1000 genomes]
rs58723610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58842178	1.00[EUR][1000 genomes]
rs59511380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59549953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60687616	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61743938	1.00[EUR][1000 genomes]
rs61743954	0.87[EUR][1000 genomes]
rs7247603	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73523072	0.87[EUR][1000 genomes]
rs73523074	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8101976	1.00[EUR][1000 genomes]
rs8102397	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
8	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18553400-18579000	Weak transcription	Fetal Kidney	kidney
2	chr19:18553800-18578000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:18554000-18577600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:18562200-18580200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:18562200-18580600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:18562800-18580800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:18566800-18577200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr19:18566800-18577600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr19:18567000-18577400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr19:18567800-18578200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:18568200-18583800	Weak transcription	Fetal Brain Male	brain
12	chr19:18571200-18576600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:18571400-18584200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:18571800-18581200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:18571800-18589600	Weak transcription	HUVEC	blood vessel
16	chr19:18572200-18581000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:18572200-18589600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:18572400-18581200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:18572400-18583200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:18572600-18580600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:18572600-18581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:18572600-18581200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:18572600-18592400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:18572800-18576800	Weak transcription	Fetal Heart	heart
25	chr19:18572800-18578000	Weak transcription	HSMM	muscle
26	chr19:18573400-18577800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:18574400-18577400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:18574600-18576800	Strong transcription	Fetal Brain Female	brain
29	chr19:18574600-18577200	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr19:18574600-18577400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:18574800-18576600	Strong transcription	Brain Germinal Matrix	brain
32	chr19:18574800-18576600	Enhancers	NHDF-Ad	bronchial
33	chr19:18574800-18577000	Genic enhancers	Lung	lung
34	chr19:18574800-18577200	Genic enhancers	Fetal Muscle Leg	muscle
35	chr19:18574800-18577600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:18574800-18577600	Strong transcription	GM12878-XiMat	blood
37	chr19:18574800-18578200	Enhancers	Brain Hippocampus Middle	brain
38	chr19:18574800-18578400	Enhancers	Left Ventricle	heart
39	chr19:18575000-18576600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:18575000-18576600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr19:18575000-18576600	Strong transcription	Dnd41	blood
42	chr19:18575000-18576800	Genic enhancers	Fetal Intestine Small	intestine
43	chr19:18575000-18577000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:18575000-18577000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
45	chr19:18575000-18577600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:18575000-18577800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr19:18575000-18578200	Genic enhancers	Fetal Stomach	stomach
48	chr19:18575000-18578400	Enhancers	Adipose Nuclei	Adipose
49	chr19:18575000-18578400	Enhancers	Brain Substantia Nigra	brain
50	chr19:18575000-18579000	Enhancers	Right Atrium	heart

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