Variant report

Variant	rs833894
Chromosome Location	chr19:38495694-38495695
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38487801..38491019-chr19:38493039..38496104,5	MCF-7	breast:
2	chr19:38480879..38483750-chr19:38494788..38496320,2	MCF-7	breast:
3	chr19:38494462..38497126-chr19:38513514..38515017,2	MCF-7	breast:
4	chr19:38485116..38487856-chr19:38494383..38496090,2	K562	blood:
5	chr19:38395923..38398238-chr19:38494250..38495788,2	MCF-7	breast:
6	chr19:38494718..38497085-chr19:38500858..38502936,2	K562	blood:
7	chr19:38397211..38400435-chr19:38493198..38497006,5	MCF-7	breast:
8	chr19:38485452..38487493-chr19:38494216..38495870,2	MCF-7	breast:
9	chr19:38472838..38474664-chr19:38494090..38496793,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105738	Chromatin interaction
ENSG00000171804	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10853715	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622543	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1643455	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1643456	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643457	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643459	0.82[EUR][1000 genomes]
rs1725501	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1725503	0.95[EUR][1000 genomes]
rs2694065	0.95[EUR][1000 genomes]
rs57733318	0.95[EUR][1000 genomes]
rs705501	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs705502	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs833893	0.95[EUR][1000 genomes]
rs833901	0.94[EUR][1000 genomes]
rs833902	0.95[EUR][1000 genomes]
rs833903	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833904	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833905	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833906	0.81[EUR][1000 genomes]
rs833907	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs833908	0.92[EUR][1000 genomes]
rs833919	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs833920	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs833921	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38474800-38513600	Weak transcription	Gastric	stomach
2	chr19:38485800-38496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:38490400-38495800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:38493400-38497800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:38493600-38496000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:38493800-38495800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr19:38493800-38495800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr19:38493800-38495800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:38493800-38495800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:38493800-38495800	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr19:38493800-38495800	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr19:38493800-38495800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr19:38493800-38495800	Flanking Active TSS	GM12878-XiMat	blood
14	chr19:38493800-38495800	Flanking Active TSS	HSMM	muscle
15	chr19:38493800-38495800	Flanking Active TSS	HSMMtube	muscle
16	chr19:38493800-38496000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr19:38493800-38496000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:38493800-38496000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:38493800-38496000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr19:38493800-38496000	Flanking Active TSS	NHEK	skin
21	chr19:38493800-38496200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:38493800-38496200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:38493800-38496400	Flanking Active TSS	Osteobl	bone
24	chr19:38493800-38497400	Enhancers	Spleen	Spleen
25	chr19:38494000-38495800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr19:38494000-38495800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr19:38494400-38495800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:38494400-38495800	Weak transcription	Lung	lung
29	chr19:38494400-38497400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:38494400-38497400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:38494600-38495800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr19:38494600-38495800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:38494600-38497400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:38494600-38500200	Weak transcription	Thymus	Thymus
35	chr19:38494800-38496800	Weak transcription	Primary T cells from cord blood	blood
36	chr19:38494800-38497000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:38494800-38497600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr19:38494800-38500200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:38495000-38495800	Active TSS	Brain Angular Gyrus	brain
40	chr19:38495000-38496200	Enhancers	Esophagus	oesophagus
41	chr19:38495000-38499200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr19:38495000-38500400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr19:38495200-38495800	Weak transcription	Colonic Mucosa	Colon
44	chr19:38495200-38495800	Enhancers	Stomach Mucosa	stomach
45	chr19:38495200-38496200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr19:38495200-38496400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:38495200-38496400	Enhancers	Fetal Heart	heart
48	chr19:38495200-38496400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr19:38495200-38497400	Enhancers	NH-A	brain
50	chr19:38495200-38497600	Enhancers	H1 Cell Line	embryonic stem cell

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