Variant report

Variant	rs58702947
Chromosome Location	chr19:19576018-19576019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19575445-19576075	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19573739..19577960-chr19:19580596..19583736,3	MCF-7	breast:
2	chr19:19566080..19568090-chr19:19575455..19577362,2	K562	blood:
3	chr19:19516568..19518207-chr19:19573514..19577628,3	MCF-7	breast:
4	chr19:19574470..19576025-chr19:19580861..19583746,2	MCF-7	breast:
5	chr19:19494923..19497823-chr19:19573798..19576950,3	K562	blood:
6	chr19:19515140..19518800-chr19:19574675..19578008,3	K562	blood:

No data

Variant related genes	Relation type
GATAD2A	TF binding region
ENSG00000167491	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10426732	0.84[AFR][1000 genomes]
rs28539064	0.84[AFR][1000 genomes]
rs56795290	1.00[AMR][1000 genomes]
rs60327356	0.84[AFR][1000 genomes]
rs60342904	1.00[AMR][1000 genomes]
rs7258488	0.84[AFR][1000 genomes]
rs73922902	0.84[AFR][1000 genomes]
rs73924839	1.00[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19567000-19576200	Enhancers	Gastric	stomach
2	chr19:19567000-19576600	Genic enhancers	Fetal Intestine Small	intestine
3	chr19:19568600-19576200	Enhancers	Stomach Mucosa	stomach
4	chr19:19568600-19576400	Enhancers	Pancreas	Pancrea
5	chr19:19569200-19576200	Weak transcription	Hela-S3	cervix
6	chr19:19570800-19576200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr19:19571800-19576200	Enhancers	Fetal Kidney	kidney
8	chr19:19573000-19576400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:19574200-19576200	Weak transcription	Aorta	Aorta
10	chr19:19574600-19576200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr19:19574800-19576200	Strong transcription	Thymus	Thymus
12	chr19:19574800-19576800	Strong transcription	K562	blood
13	chr19:19575000-19576200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:19575000-19576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:19575000-19577400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr19:19575000-19577400	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr19:19575000-19577400	Genic enhancers	Fetal Muscle Leg	muscle
18	chr19:19575000-19577400	Genic enhancers	HSMM	muscle
19	chr19:19575000-19578200	Weak transcription	Fetal Brain Male	brain
20	chr19:19575000-19578600	Weak transcription	Small Intestine	intestine
21	chr19:19575200-19576200	Strong transcription	Primary B cells from cord blood	blood
22	chr19:19575200-19576200	Enhancers	Fetal Heart	heart
23	chr19:19575200-19577400	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr19:19575200-19577600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr19:19575200-19577800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:19575200-19578000	Strong transcription	HepG2	liver
27	chr19:19575400-19576200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:19575400-19576400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:19575400-19577000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr19:19575400-19577200	Weak transcription	Psoas Muscle	Psoas
31	chr19:19575400-19577400	Strong transcription	Primary T cells from cord blood	blood
32	chr19:19575400-19577600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr19:19575400-19578200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr19:19575400-19578800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr19:19575600-19576200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:19575600-19576200	Weak transcription	Brain Substantia Nigra	brain
37	chr19:19575600-19576400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr19:19575600-19576400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:19575600-19576400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:19575600-19576400	Weak transcription	HUVEC	blood vessel
41	chr19:19575600-19576600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr19:19575600-19576600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:19575600-19576800	Genic enhancers	Lung	lung
44	chr19:19575600-19577000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr19:19575600-19577600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:19575600-19577800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr19:19575600-19578000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:19575600-19578200	Strong transcription	Liver	Liver
49	chr19:19575600-19581600	ZNF genes & repeats	GM12878-XiMat	blood
50	chr19:19575800-19576200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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