Variant report

Variant	rs10812482
Chromosome Location	chr9:26858630-26858631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10738762	0.83[AMR][1000 genomes]
rs10757635	0.83[AMR][1000 genomes]
rs10757636	0.82[AMR][1000 genomes]
rs10812479	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10812487	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10812488	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10967548	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10967549	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10967551	0.83[AMR][1000 genomes]
rs10967556	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12345197	0.83[AMR][1000 genomes]
rs4316229	0.83[AMR][1000 genomes]
rs59159685	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62544398	0.82[AMR][1000 genomes]
rs6475944	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6475945	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6475946	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6475947	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7032756	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7033238	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7034670	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7035292	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7038218	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7042133	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7042447	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7856462	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7857481	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7863476	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7868158	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];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	nsv1026827	chr9:26693515-26904699	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10812482	IFT74	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26822200-26889400	Weak transcription	Psoas Muscle	Psoas
2	chr9:26830200-26865400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:26832200-26866800	Weak transcription	Gastric	stomach
4	chr9:26832200-26878400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:26834000-26882400	Weak transcription	HUVEC	blood vessel
6	chr9:26834200-26858800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr9:26834200-26859000	Weak transcription	Fetal Kidney	kidney
8	chr9:26834200-26870600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:26834200-26878400	Weak transcription	Brain Angular Gyrus	brain
10	chr9:26834200-26878600	Weak transcription	Spleen	Spleen
11	chr9:26834200-26880200	Weak transcription	Lung	lung
12	chr9:26834200-26880200	Weak transcription	NHEK	skin
13	chr9:26834200-26882200	Weak transcription	HMEC	breast
14	chr9:26834200-26888200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:26834200-26891200	Weak transcription	NHDF-Ad	bronchial
16	chr9:26836400-26859000	Weak transcription	Fetal Brain Male	brain
17	chr9:26836400-26879600	Weak transcription	Esophagus	oesophagus
18	chr9:26836600-26891400	Weak transcription	Brain Substantia Nigra	brain
19	chr9:26838000-26878200	Weak transcription	Brain Germinal Matrix	brain
20	chr9:26838200-26858800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:26838200-26879600	Weak transcription	Pancreas	Pancrea
22	chr9:26840600-26859000	Weak transcription	Fetal Brain Female	brain
23	chr9:26840600-26882400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr9:26840800-26865400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr9:26840800-26879800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:26841200-26879800	Weak transcription	Colonic Mucosa	Colon
27	chr9:26841600-26862600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr9:26842600-26859000	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:26842600-26882200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:26842800-26879600	Weak transcription	Thymus	Thymus
31	chr9:26843200-26878400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:26846000-26861800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr9:26846400-26870600	Weak transcription	Fetal Stomach	stomach
34	chr9:26846600-26881600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr9:26847000-26883000	Weak transcription	K562	blood
36	chr9:26847400-26863200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr9:26848000-26859600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr9:26849000-26860000	Strong transcription	Primary B cells from cord blood	blood
39	chr9:26849000-26860800	Strong transcription	Liver	Liver
40	chr9:26851000-26859600	Strong transcription	Fetal Intestine Large	intestine
41	chr9:26851400-26878600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:26851400-26888000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr9:26851800-26888600	Weak transcription	Fetal Heart	heart
44	chr9:26851800-26891600	Weak transcription	Stomach Mucosa	stomach
45	chr9:26852400-26888000	Weak transcription	NHLF	lung
46	chr9:26852600-26860800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr9:26852600-26861200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr9:26852600-26861400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr9:26852600-26861800	Strong transcription	Dnd41	blood
50	chr9:26852800-26876000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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