Variant report

Variant	rs9596434
Chromosome Location	chr13:51639800-51639801
allele	A/T
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	ZNF143	chr13:51639556-51639820	H1-hESC	embryonic stem cell:	n/a	n/a
2	RCOR1	chr13:51639645-51639879	K562	blood:	n/a	n/a
3	ZNF143	chr13:51639642-51639805	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GUCY1B2	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7338712	0.87[CHB][hapmap]

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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9596434	GUCY1B2	cis	lung	GTEx
rs9596434	NUDT15	cis	parietal	SCAN
rs9596434	GUCY1B2	cis	Esophagus Mucosa	GTEx
rs9596434	GUCY1B2	cis	Skin Sun Exposed Lower leg	GTEx
rs9596434	GUCY1B2	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51632600-51639800	Enhancers	Brain Germinal Matrix	brain
2	chr13:51633200-51639800	Weak transcription	Fetal Stomach	stomach
3	chr13:51633200-51641000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:51633400-51657800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:51633800-51640000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:51633800-51640800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:51634400-51640800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:51636200-51640000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:51636800-51639800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:51637000-51641600	Enhancers	Primary hematopoietic stem cells	blood
11	chr13:51638000-51640800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:51638000-51644600	Enhancers	Fetal Brain Male	brain
13	chr13:51638400-51640000	Weak transcription	Lung	lung
14	chr13:51638400-51640600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:51638800-51639800	Enhancers	HepG2	liver
16	chr13:51638800-51640800	Enhancers	Fetal Brain Female	brain
17	chr13:51638800-51641000	Enhancers	Fetal Lung	lung
18	chr13:51639200-51639800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr13:51639200-51641200	Enhancers	Spleen	Spleen
20	chr13:51639200-51644000	Weak transcription	Fetal Kidney	kidney
21	chr13:51639400-51639800	Enhancers	Adipose Nuclei	Adipose
22	chr13:51639400-51641400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr13:51639400-51641600	Enhancers	Fetal Muscle Leg	muscle
24	chr13:51639600-51640000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:51639600-51640800	Bivalent Enhancer	HMEC	breast
26	chr13:51639600-51641000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:51639600-51641400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr13:51639600-51641400	Bivalent Enhancer	HUVEC	blood vessel
29	chr13:51639600-51641600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr13:51639600-51641600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr13:51639800-51640000	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr13:51639800-51640200	Weak transcription	Adipose Nuclei	Adipose
33	chr13:51639800-51640200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr13:51639800-51640600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr13:51639800-51641000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:51639800-51641000	Bivalent Enhancer	GM12878-XiMat	blood
37	chr13:51639800-51641600	Enhancers	Fetal Stomach	stomach
38	chr13:51639800-51642200	Weak transcription	HepG2	liver

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