Variant report

Variant	rs58844524
Chromosome Location	chr19:51304889-51304890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51296363-51305119	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:51303995-51304945	GM12892	blood:	n/a	n/a
3	POLR2A	chr19:51303981-51304958	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:51292766-51304914	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr19:51296736-51304969	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr19:51303878-51304947	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51303704..51306185-chr19:51373080..51375734,4	K562	blood:
2	chr19:51304876..51308314-chr19:51372660..51375800,4	MCF-7	breast:
3	chr19:51225811..51229710-chr19:51304326..51309315,7	K562	blood:
4	chr19:51303704..51305752-chr19:51372094..51375734,4	K562	blood:
5	chr19:51103969..51106972-chr19:51302826..51304990,3	K562	blood:

No data

Variant related genes	Relation type
SNORD88A	TF binding region
SNORD88B	TF binding region
ENSG00000167751	Chromatin interaction
ENSG00000105472	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10853825	0.91[ASN][1000 genomes]
rs12052047	0.81[ASN][1000 genomes]
rs17800513	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288417	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288418	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3909863	0.94[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs55859860	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56840371	1.00[AFR][1000 genomes]
rs56914577	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58095696	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59300606	0.81[ASN][1000 genomes]
rs62114335	1.00[AFR][1000 genomes]
rs62115586	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv912288	chr19:51283791-51334355	Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv912289	chr19:51283791-51335943	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv912290	chr19:51283791-51344483	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv526232	chr19:51301230-51335943	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 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	chr19:51297000-51306200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:51297800-51305600	Weak transcription	Fetal Brain Male	brain
3	chr19:51297800-51306200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:51298000-51305400	Weak transcription	Fetal Heart	heart
5	chr19:51298200-51305400	Strong transcription	Fetal Intestine Small	intestine
6	chr19:51298200-51305400	Strong transcription	Fetal Stomach	stomach
7	chr19:51298200-51305800	Strong transcription	Brain Germinal Matrix	brain
8	chr19:51298200-51306000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:51298200-51306800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr19:51298400-51305400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:51298400-51305400	Strong transcription	Fetal Muscle Leg	muscle
12	chr19:51298400-51305800	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr19:51298600-51305000	Strong transcription	Thymus	Thymus
14	chr19:51298600-51305200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr19:51298600-51305400	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr19:51298600-51305400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr19:51298600-51305400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr19:51298600-51305400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:51298600-51305600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:51298600-51305600	Strong transcription	Fetal Brain Female	brain
21	chr19:51298800-51305200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:51298800-51305400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:51298800-51305400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:51298800-51305400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:51298800-51305600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:51299000-51305400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:51299000-51305400	Strong transcription	Liver	Liver
28	chr19:51299200-51305800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:51299400-51305000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:51299400-51305400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:51299400-51305600	Weak transcription	NHDF-Ad	bronchial
32	chr19:51299400-51305800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:51299600-51305400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr19:51299600-51305400	Strong transcription	NHEK	skin
35	chr19:51299600-51305800	Strong transcription	Lung	lung
36	chr19:51299800-51305000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr19:51299800-51305000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:51299800-51305600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:51299800-51305600	Strong transcription	Placenta	Placenta
40	chr19:51300000-51305000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:51300000-51305000	Strong transcription	Adipose Nuclei	Adipose
42	chr19:51300000-51305000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr19:51300000-51305400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:51300000-51305600	Strong transcription	Fetal Thymus	thymus
45	chr19:51300000-51305800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:51300000-51306800	Weak transcription	Right Atrium	heart
47	chr19:51300200-51305400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:51300200-51305400	Strong transcription	Fetal Intestine Large	intestine
49	chr19:51300200-51305600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:51300200-51305800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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