Variant report

Variant	rs4808855
Chromosome Location	chr19:18874202-18874203
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18872893..18875697-chr19:18882255..18885154,3	K562	blood:
2	chr19:18871848..18875156-chr19:18958149..18962324,3	MCF-7	breast:
3	chr19:18874177..18875859-chr19:18883613..18885270,2	MCF-7	breast:
4	chr19:18805217..18807142-chr19:18873382..18875157,2	MCF-7	breast:
5	chr19:18874101..18878371-chr19:18942511..18945645,5	MCF-7	breast:
6	chr19:18873360..18874875-chr19:18936568..18938805,2	MCF-7	breast:
7	chr19:18871674..18877764-chr19:18941611..18944793,8	MCF-7	breast:
8	chr19:18669910..18672627-chr19:18873619..18876384,2	MCF-7	breast:
9	chr19:18698038..18701680-chr19:18871708..18876325,4	MCF-7	breast:
10	chr19:18850574..18852890-chr19:18872787..18874422,2	MCF-7	breast:
11	chr19:18873859..18875560-chr19:18886840..18888488,3	K562	blood:
12	chr19:18870939..18874393-chr19:18880891..18884854,3	K562	blood:
13	chr19:18841548..18843285-chr19:18871994..18874440,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105700	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000268030	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11085245	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12052183	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7260000	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8104411	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18854600-18895800	Weak transcription	Right Atrium	heart
2	chr19:18861600-18875200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr19:18862000-18875200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:18862600-18888400	Weak transcription	Aorta	Aorta
5	chr19:18864600-18887400	Weak transcription	Primary B cells from cord blood	blood
6	chr19:18864800-18875200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:18865000-18885000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:18865400-18875200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr19:18865400-18879600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr19:18865400-18880000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:18865400-18887400	Weak transcription	Primary T cells from cord blood	blood
12	chr19:18865600-18878600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:18865600-18894600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr19:18865600-18896000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr19:18868000-18877400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr19:18868000-18878400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:18868000-18885400	Weak transcription	Thymus	Thymus
18	chr19:18868200-18875600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:18868200-18890600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:18868600-18878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:18870800-18876400	Enhancers	Esophagus	oesophagus
22	chr19:18870800-18876600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr19:18871400-18875200	Enhancers	Fetal Muscle Leg	muscle
24	chr19:18871800-18874600	Enhancers	Fetal Muscle Trunk	muscle
25	chr19:18871800-18874600	Enhancers	Gastric	stomach
26	chr19:18872200-18874400	Enhancers	Fetal Heart	heart
27	chr19:18872400-18874400	Enhancers	Fetal Lung	lung
28	chr19:18872400-18875800	Flanking Active TSS	HMEC	breast
29	chr19:18872600-18874400	Enhancers	Liver	Liver
30	chr19:18872600-18874600	Enhancers	HSMM	muscle
31	chr19:18872600-18876000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:18872600-18876400	Enhancers	HSMMtube	muscle
33	chr19:18872800-18874400	Enhancers	Lung	lung
34	chr19:18872800-18874400	Enhancers	Right Ventricle	heart
35	chr19:18872800-18876200	Enhancers	NH-A	brain
36	chr19:18872800-18876400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr19:18873200-18874800	Enhancers	Osteobl	bone
38	chr19:18873200-18876200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:18873200-18876200	Enhancers	Hela-S3	cervix
40	chr19:18873400-18874600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:18873400-18876400	Enhancers	Pancreas	Pancrea
42	chr19:18873400-18878800	Weak transcription	Fetal Intestine Large	intestine
43	chr19:18873600-18874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:18873600-18874600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:18873600-18874600	Weak transcription	Placenta	Placenta
46	chr19:18873600-18874600	Weak transcription	NHDF-Ad	bronchial
47	chr19:18873600-18874800	Weak transcription	Fetal Thymus	thymus
48	chr19:18873600-18875000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr19:18873600-18875200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr19:18873600-18875200	Weak transcription	NHLF	lung

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