Variant report

Variant	rs9293275
Chromosome Location	chr5:80779904-80779905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10036712	0.86[JPT][hapmap]
rs10041030	1.00[JPT][hapmap]
rs10042303	0.92[JPT][hapmap]
rs10043164	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10056711	0.85[ASN][1000 genomes]
rs10075648	0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10454898	0.84[ASN][1000 genomes]
rs10474031	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11739075	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12153000	0.87[CHD][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs12188888	0.82[ASN][1000 genomes]
rs12697705	0.93[JPT][hapmap]
rs13171682	0.83[ASN][1000 genomes]
rs1541830	0.81[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2162973	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2396170	0.85[ASN][1000 genomes]
rs2972227	0.81[ASW][hapmap]
rs2972230	0.84[CHD][hapmap]
rs2973341	0.85[MKK][hapmap]
rs2973343	0.83[CHD][hapmap]
rs35224297	0.84[ASN][1000 genomes]
rs4529168	0.80[CHD][hapmap]
rs6452407	0.84[ASN][1000 genomes]
rs6452410	0.85[ASN][1000 genomes]
rs6452411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6452412	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6452414	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6452415	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6452416	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6866156	0.85[ASN][1000 genomes]
rs6866741	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6868422	0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6868748	0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6872775	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs6872793	0.84[ASN][1000 genomes]
rs6877102	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6878037	0.92[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6880200	0.84[JPT][hapmap]
rs6883488	0.81[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6887937	0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6897189	1.00[JPT][hapmap]
rs7711020	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs7719373	0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7733938	0.92[JPT][hapmap]
rs9596	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs964102	0.84[CHD][hapmap];0.93[JPT][hapmap]

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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80766200-80800000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:80770000-80781000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:80770000-80782600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:80770000-80787800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:80770000-80789000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:80770000-80790400	Weak transcription	Right Ventricle	heart
7	chr5:80770000-80797800	Weak transcription	GM12878-XiMat	blood
8	chr5:80770000-80800200	Weak transcription	Brain Anterior Caudate	brain
9	chr5:80770000-80801600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:80770000-80801600	Weak transcription	NHLF	lung
11	chr5:80770000-80803000	Weak transcription	Fetal Kidney	kidney
12	chr5:80770000-80811000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:80770000-80812000	Weak transcription	Left Ventricle	heart
14	chr5:80770200-80782600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:80770200-80782600	Weak transcription	Adipose Nuclei	Adipose
16	chr5:80770200-80784200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:80770200-80794800	Weak transcription	Fetal Brain Female	brain
18	chr5:80770200-80811000	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:80770400-80781400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:80770400-80793600	Weak transcription	Brain Germinal Matrix	brain
21	chr5:80770400-80801600	Weak transcription	Ovary	ovary
22	chr5:80770400-80808200	Weak transcription	Fetal Stomach	stomach
23	chr5:80771000-80780200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:80771200-80799600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:80773400-80786600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:80776200-80780000	Strong transcription	Fetal Thymus	thymus
27	chr5:80777800-80784000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:80778000-80781200	Strong transcription	Dnd41	blood
29	chr5:80778400-80797800	Weak transcription	Thymus	Thymus
30	chr5:80778800-80789600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:80778800-80797800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:80778800-80797800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:80778800-80797800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:80778800-80800400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:80779000-80785000	Weak transcription	Aorta	Aorta
36	chr5:80779000-80794800	Weak transcription	Fetal Lung	lung
37	chr5:80779000-80798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:80779000-80809600	Weak transcription	Primary T cells from cord blood	blood
39	chr5:80779000-80830200	Weak transcription	Primary B cells from cord blood	blood
40	chr5:80779000-80834400	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:80779200-80801800	Weak transcription	Fetal Heart	heart
42	chr5:80779600-80783200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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