Variant report

Variant	rs9530899
Chromosome Location	chr13:79926596-79926597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79920827..79922922-chr13:79926144..79928046,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1022891	0.87[JPT][hapmap]
rs12865187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12871015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12877507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1324868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1335368	0.80[JPT][hapmap]
rs1335370	0.80[JPT][hapmap]
rs1408658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1409018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1410336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1475797	0.84[CHB][hapmap]
rs1577416	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs1577418	0.80[JPT][hapmap]
rs17071316	0.82[YRI][hapmap]
rs1748761	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap]
rs1748768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1752648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1752649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1853830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2025913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2057573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2182009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2182010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2182873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2265377	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2265378	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2274555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2760105	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs2763809	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap]
rs2763810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2783119	0.84[CHB][hapmap]
rs2783121	0.80[JPT][hapmap]
rs2876740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap]
rs3187338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3742117	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs3742118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs3742119	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3742122	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3752994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3818563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3903388	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4146473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4885636	0.80[JPT][hapmap]
rs643778	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6563098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6563100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6563104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6563113	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs7317343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7317416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7319252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7319320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7322167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7322673	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7327386	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7327603	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7328494	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap]
rs7329331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7331872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7332367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7332913	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7336581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7338530	0.84[CHB][hapmap]
rs7339303	0.84[CHB][hapmap]
rs7981067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7987193	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7987769	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7988784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7996652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7998837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8001281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap]
rs8002042	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs912639	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap]
rs9318621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9318623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9318625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9318626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9318627	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9318634	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9318640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9318641	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9530895	1.00[YRI][hapmap]
rs9530901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9530913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9530914	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9545065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9545066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9545067	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9545076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9545083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9545085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9545086	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9545087	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9545097	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9545101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9565486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9565489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9565497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9574409	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9574416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9574422	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9574434	0.80[JPT][hapmap]
rs9593396	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900586	chr13:79892722-79968467	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv900587	chr13:79894736-79956691	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9530899	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79886600-79950200	Weak transcription	Fetal Brain Male	brain
2	chr13:79887200-79946600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr13:79888000-79942800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:79888200-79947000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr13:79888400-79947000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:79891600-79946800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:79891600-79947000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr13:79891600-79947000	Strong transcription	Dnd41	blood
9	chr13:79891800-79929200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr13:79891800-79935800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr13:79892800-79928200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:79893200-79957800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:79894200-79940200	Weak transcription	Small Intestine	intestine
14	chr13:79894400-79950200	Weak transcription	Stomach Mucosa	stomach
15	chr13:79898200-79939200	Weak transcription	Fetal Stomach	stomach
16	chr13:79898600-79941200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:79899000-79946400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr13:79900200-79933200	Weak transcription	Psoas Muscle	Psoas
19	chr13:79901400-79939200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:79904000-79928600	Weak transcription	Right Ventricle	heart
21	chr13:79905200-79928600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:79906200-79939400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:79907200-79934200	Strong transcription	Liver	Liver
24	chr13:79908600-79928000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr13:79909600-79939600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:79910000-79928600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr13:79911600-79938600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr13:79911600-79939200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:79911600-79939200	Weak transcription	Gastric	stomach
30	chr13:79911600-79944000	Weak transcription	Esophagus	oesophagus
31	chr13:79911800-79927200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr13:79911800-79928000	Weak transcription	Brain Angular Gyrus	brain
33	chr13:79911800-79939200	Weak transcription	Spleen	Spleen
34	chr13:79912000-79927000	Weak transcription	Brain Substantia Nigra	brain
35	chr13:79912200-79927600	Weak transcription	Fetal Brain Female	brain
36	chr13:79912400-79928600	Weak transcription	Lung	lung
37	chr13:79912400-79930000	Weak transcription	Fetal Intestine Small	intestine
38	chr13:79912400-79939200	Weak transcription	Aorta	Aorta
39	chr13:79912600-79927800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:79912600-79927800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr13:79912800-79926800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr13:79913200-79927800	Weak transcription	Thymus	Thymus
43	chr13:79913400-79926600	Weak transcription	NHEK	skin
44	chr13:79913400-79928400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr13:79913400-79936400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:79913600-79927800	Weak transcription	Colonic Mucosa	Colon
47	chr13:79913600-79927800	Weak transcription	Left Ventricle	heart
48	chr13:79913600-79928600	Weak transcription	Colon Smooth Muscle	Colon
49	chr13:79915600-79927800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr13:79916400-79927400	Weak transcription	NHLF	lung

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