Variant report

Variant	rs55927831
Chromosome Location	chr19:19585208-19585209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19584133..19587197-chr19:19592002..19595372,3	K562	blood:
2	chr19:19584315..19588308-chr19:19588802..19591974,4	K562	blood:
3	chr19:19580831..19583054-chr19:19584529..19587065,3	K562	blood:
4	chr19:19581501..19584310-chr19:19584529..19586340,3	K562	blood:
5	chr19:19496791..19501491-chr19:19584169..19587621,5	MCF-7	breast:
6	chr19:19574214..19577811-chr19:19584018..19587977,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10401822	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10403737	1.00[AMR][1000 genomes]
rs10405475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10412351	1.00[AFR][1000 genomes]
rs10413582	1.00[AMR][1000 genomes]
rs10416335	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10421166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423535	1.00[AMR][1000 genomes]
rs10425164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10425574	1.00[AMR][1000 genomes]
rs13344439	0.89[AMR][1000 genomes]
rs16996102	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59344441	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60455087	0.89[AMR][1000 genomes]
rs73922887	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922890	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922896	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9304961	0.89[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 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	chr19:19577800-19598000	Weak transcription	Ovary	ovary
2	chr19:19579200-19585400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:19579200-19585800	Weak transcription	Hela-S3	cervix
4	chr19:19579200-19586000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:19579200-19598000	Weak transcription	Small Intestine	intestine
6	chr19:19579400-19585600	Weak transcription	Fetal Heart	heart
7	chr19:19579400-19599400	Weak transcription	Brain Angular Gyrus	brain
8	chr19:19579800-19585400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:19579800-19585400	Weak transcription	NHDF-Ad	bronchial
10	chr19:19579800-19585600	Weak transcription	Fetal Brain Female	brain
11	chr19:19579800-19587400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:19579800-19591000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:19579800-19593400	Weak transcription	Fetal Kidney	kidney
14	chr19:19579800-19595600	Weak transcription	Osteobl	bone
15	chr19:19579800-19595800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:19579800-19595800	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:19579800-19595800	Weak transcription	HUVEC	blood vessel
18	chr19:19579800-19598600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:19579800-19599200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:19579800-19599800	Weak transcription	Brain Substantia Nigra	brain
21	chr19:19580000-19585400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:19580000-19585600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:19580600-19595200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:19580600-19597200	Weak transcription	Brain Anterior Caudate	brain
25	chr19:19580800-19593600	Strong transcription	Fetal Intestine Small	intestine
26	chr19:19581400-19589000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:19581600-19585800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:19581600-19587800	Strong transcription	NHEK	skin
29	chr19:19581600-19595200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:19581800-19587000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:19582200-19597600	Strong transcription	Dnd41	blood
32	chr19:19582600-19585600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:19582600-19586800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:19583200-19586400	Weak transcription	Stomach Mucosa	stomach
35	chr19:19583200-19587400	Strong transcription	Primary B cells from cord blood	blood
36	chr19:19583400-19585800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:19583400-19586000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr19:19583400-19586200	Strong transcription	Gastric	stomach
39	chr19:19583400-19587600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr19:19583400-19588000	Genic enhancers	Spleen	Spleen
41	chr19:19583400-19588400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:19583400-19588800	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr19:19583600-19585400	Genic enhancers	Primary B cells from peripheral blood	blood
44	chr19:19583600-19585400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr19:19583600-19585400	Strong transcription	HMEC	breast
46	chr19:19583600-19585800	Strong transcription	Fetal Stomach	stomach
47	chr19:19583600-19586000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr19:19583600-19586000	Genic enhancers	HSMM	muscle
49	chr19:19583600-19586200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:19583600-19586200	Strong transcription	Monocytes-CD14+_RO01746	blood

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