Variant report

Variant	rs952609
Chromosome Location	chr19:19519568-19519569
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19518514..19520258-chr19:19600327..19603326,2	K562	blood:
2	chr19:19517676..19523653-chr19:19565926..19570851,6	K562	blood:
3	chr19:19471807..19473725-chr19:19518188..19520974,2	K562	blood:
4	chr19:19518149..19520841-chr19:19526563..19530203,3	MCF-7	breast:
5	chr19:19492268..19501550-chr19:19512499..19523684,29	K562	blood:
6	chr19:19514595..19517232-chr19:19518026..19521023,2	MCF-7	breast:
7	chr19:19517059..19519979-chr19:19556271..19558619,2	MCF-7	breast:
8	chr19:19491673..19504307-chr19:19513999..19523684,33	K562	blood:
9	chr19:19428553..19432587-chr19:19515649..19520173,6	K562	blood:
10	chr19:19514824..19526614-chr19:19535593..19543548,15	K562	blood:
11	chr19:19494732..19500297-chr19:19512585..19520288,14	MCF-7	breast:
12	chr19:19476063..19479194-chr19:19516845..19521061,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000129933	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10404656	0.96[YRI][hapmap];0.80[AMR][1000 genomes]
rs10407522	0.96[YRI][hapmap];0.80[AMR][1000 genomes]
rs10409927	0.80[AMR][1000 genomes]
rs10412787	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.80[AMR][1000 genomes]
rs10419026	0.80[AMR][1000 genomes]
rs10419240	0.80[AMR][1000 genomes]
rs10426633	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs13344439	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs16996085	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs16996119	1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs2304097	0.83[ASW][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap]
rs28434154	0.80[AMR][1000 genomes]
rs28553975	0.80[AMR][1000 genomes]
rs59928694	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60455087	0.88[AFR][1000 genomes]
rs7254150	0.96[YRI][hapmap];0.80[AMR][1000 genomes]
rs73922883	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73922888	0.81[AFR][1000 genomes];0.80[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19518000-19521800	Weak transcription	Aorta	Aorta
2	chr19:19518200-19521600	Enhancers	Fetal Thymus	thymus
3	chr19:19518200-19521600	Enhancers	Stomach Mucosa	stomach
4	chr19:19518200-19522000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr19:19518200-19522800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:19518400-19519600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:19518400-19519600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:19518400-19520200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:19518400-19520200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:19518400-19520200	Weak transcription	Thymus	Thymus
11	chr19:19518400-19520800	Enhancers	Dnd41	blood
12	chr19:19518400-19521400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:19518400-19521600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr19:19518400-19521600	Enhancers	NHEK	skin
15	chr19:19518400-19521800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr19:19518400-19522000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr19:19518400-19522000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:19518400-19522000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr19:19518400-19522600	Enhancers	Primary T cells from cord blood	blood
20	chr19:19518400-19522600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr19:19518400-19522800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr19:19518400-19525200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr19:19518600-19519600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr19:19518600-19519600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:19518600-19519600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:19518600-19519600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:19518600-19519600	Weak transcription	Fetal Intestine Large	intestine
28	chr19:19518600-19519600	Weak transcription	Placenta	Placenta
29	chr19:19518600-19519600	Weak transcription	Gastric	stomach
30	chr19:19518600-19519600	Weak transcription	Left Ventricle	heart
31	chr19:19518600-19519600	Weak transcription	Psoas Muscle	Psoas
32	chr19:19518600-19519600	Weak transcription	Small Intestine	intestine
33	chr19:19518600-19519600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr19:19518600-19519600	Weak transcription	Spleen	Spleen
35	chr19:19518600-19519800	Weak transcription	HSMMtube	muscle
36	chr19:19518600-19520000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:19518600-19520000	Weak transcription	Esophagus	oesophagus
38	chr19:19518600-19520000	Weak transcription	Ovary	ovary
39	chr19:19518600-19520000	Weak transcription	Pancreas	Pancrea
40	chr19:19518600-19520000	Weak transcription	Right Atrium	heart
41	chr19:19518600-19520200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr19:19518600-19520200	Weak transcription	Brain Substantia Nigra	brain
43	chr19:19518600-19520200	Weak transcription	Right Ventricle	heart
44	chr19:19518600-19520400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr19:19518600-19520400	Enhancers	NHDF-Ad	bronchial
46	chr19:19518600-19520800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr19:19518600-19520800	Weak transcription	Colonic Mucosa	Colon
48	chr19:19518600-19520800	Enhancers	Fetal Intestine Small	intestine
49	chr19:19518600-19520800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:19518600-19521000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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