Variant report

Variant	rs16982429
Chromosome Location	chr19:18581014-18581015
allele	C/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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18578005..18583485-chr19:18698859..18704504,8	K562	blood:
2	chr19:18580167..18582831-chr19:18590053..18592276,2	K562	blood:
3	chr19:18561557..18562363-chr19:18580538..18581060,2	MCF-7	breast:
4	chr19:18575464..18579063-chr19:18579227..18581262,3	MCF-7	breast:
5	chr19:18580151..18581282-chr19:18786328..18787235,4	K562	blood:
6	chr19:18578015..18581156-chr19:18630160..18634205,3	MCF-7	breast:
7	chr19:18580331..18582305-chr19:18602363..18604231,2	K562	blood:
8	chr19:18580824..18581435-chr19:19097261..19098144,2	K562	blood:
9	chr19:18579148..18581595-chr19:18682521..18684209,2	K562	blood:
10	chr19:18551963..18553757-chr19:18579814..18581488,2	MCF-7	breast:
11	chr19:18580387..18581242-chr19:18957630..18958614,2	MCF-7	breast:
12	chr19:18580072..18582052-chr19:18631050..18633608,2	K562	blood:
13	chr19:18579076..18581606-chr19:18666519..18668998,2	K562	blood:
14	chr19:18574479..18576358-chr19:18579321..18581431,3	K562	blood:
15	chr19:18580822..18585022-chr19:18586559..18590486,5	K562	blood:
16	chr19:18579526..18582927-chr19:18630467..18633714,5	MCF-7	breast:
17	chr19:18580143..18583042-chr19:18682294..18684150,3	MCF-7	breast:
18	chr19:18578976..18581228-chr19:18595919..18598286,2	K562	blood:
19	chr19:18578188..18581023-chr19:18588247..18591151,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105700	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000268199	Chromatin interaction
ENSG00000105656	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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16982427	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16982485	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2314669	0.87[EUR][1000 genomes]
rs34078075	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34868531	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35328461	1.00[EUR][1000 genomes]
rs58410315	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58604797	1.00[EUR][1000 genomes]
rs58723610	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58842178	1.00[EUR][1000 genomes]
rs59511380	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59549953	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60687616	0.82[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	0.82[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18568200-18583800	Weak transcription	Fetal Brain Male	brain
2	chr19:18571400-18584200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:18571800-18581200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:18571800-18589600	Weak transcription	HUVEC	blood vessel
5	chr19:18572200-18589600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:18572400-18581200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:18572400-18583200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:18572600-18581200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:18572600-18592400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:18575000-18582000	Enhancers	Liver	Liver
11	chr19:18575200-18581400	Enhancers	Psoas Muscle	Psoas
12	chr19:18575200-18581600	Enhancers	Stomach Mucosa	stomach
13	chr19:18575400-18607200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:18575600-18587000	Weak transcription	Primary B cells from cord blood	blood
15	chr19:18575800-18585000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:18575800-18590800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:18576000-18584000	Weak transcription	Small Intestine	intestine
18	chr19:18576200-18590800	Weak transcription	Aorta	Aorta
19	chr19:18576400-18581400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:18576400-18583000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:18576400-18586400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:18576400-18589600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:18576600-18581600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:18576600-18582600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:18576600-18586400	Weak transcription	Brain Germinal Matrix	brain
26	chr19:18576800-18581600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:18576800-18586600	Weak transcription	Fetal Lung	lung
28	chr19:18576800-18587600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr19:18576800-18591000	Weak transcription	Fetal Brain Female	brain
30	chr19:18577000-18581800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr19:18577000-18582200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:18577400-18581400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:18577600-18583400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr19:18577800-18581400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:18578200-18581400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:18578400-18581200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr19:18578400-18581600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:18578400-18589000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:18578400-18589400	Weak transcription	NH-A	brain
40	chr19:18579000-18581200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:18579000-18581400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:18579000-18581800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
43	chr19:18579000-18581800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:18579200-18581200	Genic enhancers	Gastric	stomach
45	chr19:18579200-18583200	Weak transcription	Osteobl	bone
46	chr19:18579400-18581600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:18579400-18582000	Strong transcription	NHEK	skin
48	chr19:18579400-18584400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:18579600-18581200	Flanking Active TSS	HepG2	liver
50	chr19:18579600-18581400	Enhancers	Adipose Nuclei	Adipose

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