Variant report

Variant	rs9596435
Chromosome Location	chr13:51641473-51641474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:51641473-51641624	HepG2	liver:	n/a	chr13:51641514-51641527 chr13:51641514-51641525

No.	Distal block	Cell Line	Cell type
1	chr13:51636070..51637847-chr13:51641416..51643792,2	K562	blood:
2	chr13:51633296..51638107-chr13:51641307..51645101,5	MCF-7	breast:
3	chr13:51632808..51634425-chr13:51641249..51643294,2	K562	blood:

Variant related genes	Relation type
GUCY1B2	TF binding region
ENSG00000123201	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12869642	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12870315	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12870383	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1328358	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4605050	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4942946	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6561609	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6561610	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7325888	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7337587	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7338712	0.88[EUR][1000 genomes]
rs9535567	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9535573	0.86[AMR][1000 genomes]
rs9563016	0.88[EUR][1000 genomes];0.96[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	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9596435	GUCY1B2	cis	Skin Sun Exposed Lower leg	GTEx
rs9596435	GUCY1B2	cis	Esophagus Mucosa	GTEx
rs9596435	GUCY1B2	cis	Nerve Tibial	GTEx
rs9596435	GUCY1B2	cis	lung	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51633400-51657800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:51637000-51641600	Enhancers	Primary hematopoietic stem cells	blood
3	chr13:51638000-51644600	Enhancers	Fetal Brain Male	brain
4	chr13:51639200-51644000	Weak transcription	Fetal Kidney	kidney
5	chr13:51639400-51641600	Enhancers	Fetal Muscle Leg	muscle
6	chr13:51639600-51641600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr13:51639600-51641600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr13:51639800-51641600	Enhancers	Fetal Stomach	stomach
9	chr13:51639800-51642200	Weak transcription	HepG2	liver
10	chr13:51640000-51641600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:51640000-51641800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr13:51640000-51644200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:51640200-51644600	Enhancers	Fetal Heart	heart
14	chr13:51640400-51641600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
15	chr13:51640800-51641600	Flanking Active TSS	Fetal Brain Female	brain
16	chr13:51640800-51641800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr13:51640800-51641800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:51640800-51641800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:51641000-51641600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:51641000-51641600	Enhancers	Brain Angular Gyrus	brain
21	chr13:51641000-51641800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr13:51641000-51642800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:51641000-51643000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:51641000-51643800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:51641000-51644000	Weak transcription	HSMM	muscle
26	chr13:51641200-51641600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr13:51641200-51641600	Enhancers	Fetal Lung	lung
28	chr13:51641200-51641800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr13:51641200-51641800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:51641200-51641800	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr13:51641200-51642200	Weak transcription	Spleen	Spleen
32	chr13:51641200-51644000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr13:51641200-51644200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr13:51641400-51641800	Active TSS	Brain Anterior Caudate	brain
35	chr13:51641400-51641800	Enhancers	NH-A	brain
36	chr13:51641400-51642200	Active TSS	Brain Germinal Matrix	brain
37	chr13:51641400-51643200	Weak transcription	Adipose Nuclei	Adipose
38	chr13:51641400-51643600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:51641400-51644000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr13:51641400-51644000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr13:51641400-51644000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr13:51641400-51644000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr13:51641400-51644000	Weak transcription	Fetal Thymus	thymus
44	chr13:51641400-51644000	Enhancers	Dnd41	blood

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