Variant report

Variant	rs9526705
Chromosome Location	chr13:51487635-51487636
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:5)
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	GATA1	chr13:51486060-51487771	PBDE	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:50696984..50702154-chr13:51483455..51488031,9	K562	blood:
2	chr13:51482216..51484918-chr13:51486797..51488418,2	MCF-7	breast:
3	chr13:50569035..50571663-chr13:51485702..51487859,2	K562	blood:
4	chr13:51486556..51488218-chr13:51489286..51491989,2	MCF-7	breast:
5	chr13:50696939..50701257-chr13:51483386..51488031,9	K562	blood:

No data

Variant related genes	Relation type
RNASEH2B-AS1	TF binding region
ENSG00000233672	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000136104	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1328360	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17589481	1.00[ASN][1000 genomes]
rs1870839	1.00[ASN][1000 genomes]
rs2441	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942941	1.00[ASN][1000 genomes]
rs7994724	1.00[ASN][1000 genomes]
rs9526704	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526708	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535516	1.00[ASN][1000 genomes]
rs9535524	1.00[ASN][1000 genomes]
rs9535525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535528	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535530	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535532	0.94[EUR][1000 genomes]
rs9591369	1.00[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	nsv900077	chr13:51446114-51514831	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9526705	RNASEH2B	cis	Muscle Skeletal	GTEx
rs9526705	RNASEH2B-AS1	cis	Thyroid	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51485000-51488600	Weak transcription	Aorta	Aorta
2	chr13:51485000-51489600	Weak transcription	Spleen	Spleen
3	chr13:51485000-51490800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:51485000-51490800	Weak transcription	Lung	lung
5	chr13:51485000-51491200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:51485000-51496200	Weak transcription	Ovary	ovary
7	chr13:51485200-51495600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr13:51485400-51488600	Weak transcription	Right Atrium	heart
9	chr13:51485400-51489000	Weak transcription	Right Ventricle	heart
10	chr13:51485400-51504200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:51485600-51490000	Enhancers	Fetal Heart	heart
12	chr13:51485600-51490600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:51485800-51489000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr13:51485800-51489400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:51485800-51490800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr13:51486000-51489600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:51486000-51495800	Weak transcription	Fetal Brain Female	brain
18	chr13:51486200-51488000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr13:51486200-51488400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:51486200-51488400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr13:51486200-51488400	Weak transcription	HSMM	muscle
22	chr13:51486200-51488400	Weak transcription	HSMMtube	muscle
23	chr13:51486200-51488400	Weak transcription	Osteobl	bone
24	chr13:51486200-51488600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:51486200-51488600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:51486200-51488600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr13:51486200-51489200	Weak transcription	Adipose Nuclei	Adipose
28	chr13:51486200-51490000	Enhancers	NHLF	lung
29	chr13:51486200-51490800	Enhancers	Primary hematopoietic stem cells	blood
30	chr13:51486400-51487800	Flanking Active TSS	Thymus	Thymus
31	chr13:51486400-51488400	Weak transcription	NHDF-Ad	bronchial
32	chr13:51486400-51488600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:51486400-51488600	Weak transcription	Fetal Kidney	kidney
34	chr13:51486400-51489200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:51486400-51489400	Weak transcription	Brain Hippocampus Middle	brain
36	chr13:51486400-51490600	Weak transcription	HUVEC	blood vessel
37	chr13:51486400-51490800	Enhancers	Primary B cells from cord blood	blood
38	chr13:51486400-51491000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr13:51486400-51491400	Weak transcription	Brain Substantia Nigra	brain
40	chr13:51486400-51491600	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr13:51486600-51487800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr13:51486600-51488400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:51486600-51488400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:51486600-51488400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr13:51486600-51488600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr13:51486600-51488600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:51486600-51488600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr13:51486600-51488600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr13:51486600-51488600	Weak transcription	Stomach Mucosa	stomach
50	chr13:51486600-51488800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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