Variant report

Variant	rs17437101
Chromosome Location	chr2:100615241-100615242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10185707	0.94[EUR][1000 genomes]
rs10198062	0.94[EUR][1000 genomes]
rs10209198	0.83[EUR][1000 genomes]
rs10211423	0.89[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs13385193	0.88[EUR][1000 genomes]
rs13392222	0.84[EUR][1000 genomes]
rs13393937	0.80[EUR][1000 genomes]
rs1574207	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17023362	0.88[EUR][1000 genomes]
rs17023378	0.88[EUR][1000 genomes]
rs17023391	0.90[EUR][1000 genomes]
rs17023393	0.90[EUR][1000 genomes]
rs17023453	0.85[EUR][1000 genomes]
rs17023459	0.85[EUR][1000 genomes]
rs17352514	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17352745	0.87[EUR][1000 genomes]
rs17352801	0.87[EUR][1000 genomes]
rs17352808	0.87[EUR][1000 genomes]
rs17436955	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17436983	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17437248	0.84[EUR][1000 genomes]
rs17437282	0.87[EUR][1000 genomes]
rs17437338	0.87[EUR][1000 genomes]
rs2001722	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2309775	0.88[EUR][1000 genomes]
rs2309776	0.80[EUR][1000 genomes]
rs4485586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55649403	0.89[EUR][1000 genomes]
rs55681051	0.89[EUR][1000 genomes]
rs62147652	0.81[EUR][1000 genomes]
rs62147658	0.81[EUR][1000 genomes]
rs62147659	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62149260	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62149262	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62149263	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62149264	1.00[AFR][1000 genomes]
rs62149268	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62149270	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62149272	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62149297	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62149298	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62149299	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62149301	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62149303	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62149304	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62149305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62149307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62149310	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62149311	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62149314	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62149316	0.93[EUR][1000 genomes]
rs62149319	0.85[EUR][1000 genomes]
rs62149320	0.87[EUR][1000 genomes]
rs62149321	0.87[EUR][1000 genomes]
rs62149341	0.87[EUR][1000 genomes]
rs62149343	0.83[EUR][1000 genomes]
rs6719214	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6736239	0.89[EUR][1000 genomes]
rs6750214	0.86[EUR][1000 genomes]
rs72819146	0.81[EUR][1000 genomes]
rs72819148	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72819149	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72819165	0.89[EUR][1000 genomes]
rs72819167	0.87[EUR][1000 genomes]
rs9308831	0.85[EUR][1000 genomes]
rs9308832	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17437101	IL1R1	cis	parietal	SCAN
rs17437101	RPL31	cis	cerebellum	SCAN
rs17437101	AFF3	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100550800-100618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:100564800-100617000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100577400-100618200	Weak transcription	Aorta	Aorta
5	chr2:100577800-100623000	Weak transcription	Adipose Nuclei	Adipose
6	chr2:100577800-100623000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:100578000-100616200	Weak transcription	Fetal Thymus	thymus
8	chr2:100587400-100623000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:100587400-100623000	Weak transcription	Spleen	Spleen
10	chr2:100590400-100618000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:100592600-100626400	Weak transcription	NH-A	brain
12	chr2:100594600-100623000	Weak transcription	Gastric	stomach
13	chr2:100598600-100623000	Weak transcription	Lung	lung
14	chr2:100600400-100616800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:100605200-100627200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:100605400-100615600	Weak transcription	Primary T cells from cord blood	blood
17	chr2:100605400-100623000	Weak transcription	Ovary	ovary
18	chr2:100605400-100627800	Weak transcription	Right Ventricle	heart
19	chr2:100607400-100623000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:100607800-100622800	Weak transcription	Brain Germinal Matrix	brain
21	chr2:100610800-100625800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:100613200-100626200	Strong transcription	Primary B cells from cord blood	blood
24	chr2:100613400-100618800	Strong transcription	Primary hematopoietic stem cells	blood
25	chr2:100614200-100615600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:100614200-100616200	Enhancers	Fetal Brain Female	brain
27	chr2:100614400-100616800	Weak transcription	Dnd41	blood
28	chr2:100614400-100625600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:100614600-100620600	Enhancers	Fetal Brain Male	brain
30	chr2:100614800-100615800	Enhancers	Fetal Stomach	stomach
31	chr2:100614800-100616400	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:100614800-100623400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:100615000-100615600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:100615000-100615600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:100615000-100616000	Enhancers	Fetal Lung	lung
36	chr2:100615000-100616200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:100615000-100616600	Enhancers	Fetal Kidney	kidney
38	chr2:100615000-100623000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:100615000-100623000	Weak transcription	Thymus	Thymus
40	chr2:100615200-100615400	Enhancers	Fetal Muscle Leg	muscle
41	chr2:100615200-100616400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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