Variant report

Variant	rs6745568
Chromosome Location	chr2:100264145-100264146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10167554	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11123790	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684088	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12620982	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12712049	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12712054	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13029690	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1357719	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1996984	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2030691	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2030692	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2030693	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2049400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2177541	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2177542	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2309729	0.83[EUR][1000 genomes]
rs2871316	0.83[EUR][1000 genomes]
rs3792129	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3792130	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3792131	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4332968	0.80[EUR][1000 genomes]
rs4850910	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4851220	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4851221	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6542884	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6738724	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6746146	0.81[EUR][1000 genomes]
rs7561009	0.83[EUR][1000 genomes]
rs7579222	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs868665	0.81[EUR][1000 genomes]
rs9284724	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9308826	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9308827	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9678859	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	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
4	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6745568	IL1RL1	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100253200-100308800	Weak transcription	Gastric	stomach
2	chr2:100254000-100265000	Weak transcription	Spleen	Spleen
3	chr2:100255400-100268600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100255400-100285400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:100255400-100285400	Weak transcription	Dnd41	blood
6	chr2:100256600-100267400	Weak transcription	Fetal Thymus	thymus
7	chr2:100257600-100265000	Weak transcription	Left Ventricle	heart
8	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
9	chr2:100259400-100274600	Weak transcription	Primary T cells from cord blood	blood
10	chr2:100260200-100283600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:100260600-100265000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:100260800-100274400	Weak transcription	Right Atrium	heart
13	chr2:100261200-100264200	Weak transcription	Fetal Heart	heart
14	chr2:100261200-100264600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:100261200-100265000	Weak transcription	Brain Anterior Caudate	brain
16	chr2:100261400-100264200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:100261400-100264400	Weak transcription	NHDF-Ad	bronchial
18	chr2:100261400-100264600	Weak transcription	Brain Angular Gyrus	brain
19	chr2:100261400-100264600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:100261400-100264800	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:100261400-100264800	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:100261400-100264800	Weak transcription	Fetal Stomach	stomach
23	chr2:100261400-100264800	Weak transcription	Pancreas	Pancrea
24	chr2:100261400-100265000	Weak transcription	Brain Germinal Matrix	brain
25	chr2:100261400-100265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:100261400-100265000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:100261400-100266800	Enhancers	Fetal Brain Male	brain
28	chr2:100261400-100268400	Weak transcription	NH-A	brain
29	chr2:100261400-100279000	Weak transcription	Fetal Kidney	kidney
30	chr2:100261600-100264400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:100261600-100265000	Weak transcription	Adipose Nuclei	Adipose
32	chr2:100261600-100265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:100261800-100265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:100262200-100264200	Weak transcription	Fetal Brain Female	brain
35	chr2:100262400-100266800	Strong transcription	Primary B cells from cord blood	blood
36	chr2:100262600-100264200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:100262800-100264800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:100263200-100264800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:100263800-100264200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:100263800-100264400	Enhancers	Ovary	ovary
41	chr2:100263800-100265000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:100263800-100266600	Enhancers	Fetal Lung	lung
43	chr2:100264000-100264200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:100264000-100265000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:100264000-100266600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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