Variant report

Variant	rs286445
Chromosome Location	chr5:35639275-35639276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10042632	0.84[CHB][hapmap]
rs10043903	0.88[CHB][hapmap];0.87[JPT][hapmap];0.82[YRI][hapmap]
rs10063459	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10072883	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1013156	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs10472977	0.89[CHB][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11748781	0.86[ASW][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12172997	0.84[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs12517628	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12518827	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13328194	0.81[EUR][1000 genomes]
rs1353255	0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1389845	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1494584	0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2035992	0.89[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2035993	0.89[CHB][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2035994	0.89[CHB][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2172755	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2270558	0.87[ASW][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs286446	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs286447	0.86[ASW][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35297265	0.80[ASN][1000 genomes]
rs4703366	0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4703367	0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4703420	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4703421	0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4703423	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55962008	0.90[ASN][1000 genomes]
rs6414876	0.82[ASN][1000 genomes]
rs6451206	0.82[ASN][1000 genomes]
rs6451207	0.82[ASN][1000 genomes]
rs68186165	0.82[ASN][1000 genomes]
rs6862856	0.82[ASN][1000 genomes]
rs6863096	0.86[ASW][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6868260	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs6873927	0.80[ASN][1000 genomes]
rs6874120	0.81[CHB][hapmap]
rs6874194	0.80[ASN][1000 genomes]
rs6878388	0.82[ASN][1000 genomes]
rs6884001	0.81[ASN][1000 genomes]
rs6889546	0.82[ASN][1000 genomes]
rs6891905	0.86[ASW][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6896510	0.86[ASW][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6897434	0.82[ASN][1000 genomes]
rs6897513	0.87[ASW][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.82[LWK][hapmap];0.90[MEX][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6898356	0.82[ASN][1000 genomes]
rs7703256	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7706719	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7709682	0.80[ASN][1000 genomes]
rs7709794	0.80[ASN][1000 genomes]
rs7713174	0.81[JPT][hapmap]
rs7717770	0.89[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9292598	0.84[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9292600	0.84[CHB][hapmap]
rs9292604	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs961149	0.86[ASW][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs989063	0.84[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.94[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	nsv525477	chr5:35530905-35792990	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs286445	SUB1	cis	parietal	SCAN
rs286445	NIPBL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35618600-35646800	Weak transcription	Spleen	Spleen
2	chr5:35618600-35653800	Weak transcription	Lung	lung
3	chr5:35618600-35678000	Weak transcription	Left Ventricle	heart
4	chr5:35619000-35644200	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:35619000-35651400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:35619000-35651600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:35619000-35652000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:35619200-35644000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:35619200-35645800	Weak transcription	Small Intestine	intestine
10	chr5:35619200-35646000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:35619200-35649800	Weak transcription	Hela-S3	cervix
12	chr5:35619200-35651400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:35619400-35652200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:35625600-35650000	Weak transcription	Right Ventricle	heart
15	chr5:35627200-35656600	Weak transcription	Osteobl	bone
16	chr5:35630400-35662400	Weak transcription	Aorta	Aorta
17	chr5:35630600-35642800	Weak transcription	Fetal Stomach	stomach
18	chr5:35630600-35663400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:35630600-35707600	Weak transcription	Pancreas	Pancrea
20	chr5:35632000-35643200	Weak transcription	Fetal Kidney	kidney
21	chr5:35632600-35644000	Weak transcription	Brain Angular Gyrus	brain
22	chr5:35632600-35652400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr5:35633400-35642000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:35634800-35644200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:35634800-35644200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:35634800-35644600	Weak transcription	Fetal Lung	lung
27	chr5:35634800-35651200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:35634800-35651200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:35634800-35658200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr5:35634800-35658200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:35634800-35673200	Weak transcription	Brain Anterior Caudate	brain
32	chr5:35635000-35652000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:35635400-35640000	Weak transcription	Liver	Liver
34	chr5:35635400-35651000	Weak transcription	Dnd41	blood
35	chr5:35635600-35648800	Weak transcription	Gastric	stomach
36	chr5:35635600-35651200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr5:35635600-35660400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:35635600-35665400	Weak transcription	Fetal Intestine Small	intestine
39	chr5:35635800-35664000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:35636000-35643600	Weak transcription	Fetal Intestine Large	intestine
41	chr5:35636000-35644600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:35636000-35649800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:35636800-35640600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:35638000-35643800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:35638600-35651600	Weak transcription	Primary T cells from cord blood	blood
46	chr5:35638800-35640600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr5:35639000-35639600	Strong transcription	Ovary	ovary
48	chr5:35639000-35655600	Weak transcription	Adipose Nuclei	Adipose
49	chr5:35639200-35639400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr5:35639200-35644400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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