Variant report

Variant	rs2143420
Chromosome Location	chr22:28460766-28460767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10154425	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs10483141	1.00[CHB][hapmap]
rs10483143	1.00[ASW][hapmap];0.89[MEX][hapmap];0.89[YRI][hapmap]
rs12166023	0.89[YRI][hapmap]
rs12166077	0.89[MEX][hapmap]
rs12166719	0.89[YRI][hapmap]
rs12166740	0.89[MEX][hapmap];0.89[YRI][hapmap]
rs12166912	0.89[YRI][hapmap]
rs12167128	0.85[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12167735	1.00[ASW][hapmap]
rs12168054	0.89[YRI][hapmap]
rs12168180	0.89[YRI][hapmap]
rs12170161	0.90[MEX][hapmap]
rs12170558	0.89[YRI][hapmap]
rs12170953	0.89[YRI][hapmap]
rs130414	0.85[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs134194	1.00[ASW][hapmap]
rs135641	1.00[CHB][hapmap]
rs135642	1.00[CHB][hapmap]
rs135644	1.00[CHB][hapmap]
rs135645	1.00[CHB][hapmap]
rs135649	1.00[CHB][hapmap]
rs135653	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs138630	0.83[EUR][1000 genomes]
rs138646	1.00[CHB][hapmap]
rs138648	0.90[MEX][hapmap]
rs138651	0.89[YRI][hapmap]
rs138653	0.89[YRI][hapmap]
rs138658	0.89[YRI][hapmap]
rs138660	0.89[MEX][hapmap];0.89[YRI][hapmap]
rs138664	0.89[MEX][hapmap]
rs138679	0.89[MEX][hapmap]
rs138680	1.00[CHB][hapmap]
rs1569700	1.00[CHB][hapmap]
rs16985967	1.00[ASW][hapmap];0.89[MEX][hapmap];0.89[YRI][hapmap]
rs16985976	0.89[YRI][hapmap]
rs16986037	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs16986077	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs16986177	1.00[CHB][hapmap]
rs16987005	0.89[YRI][hapmap]
rs17483887	1.00[ASW][hapmap];0.89[MEX][hapmap];0.89[YRI][hapmap]
rs17484337	0.89[YRI][hapmap]
rs2038287	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2345011	1.00[CHB][hapmap]
rs34734418	0.81[EUR][1000 genomes]
rs470101	1.00[CHB][hapmap]
rs470103	0.89[MEX][hapmap]
rs7285440	1.00[CHB][hapmap]
rs7292859	0.82[EUR][1000 genomes]
rs9306451	0.89[YRI][hapmap]
rs9306452	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs9620762	0.89[MEX][hapmap];0.89[YRI][hapmap]
rs9620764	0.89[MEX][hapmap]
rs9620766	0.89[YRI][hapmap]
rs9620767	0.89[YRI][hapmap]
rs9620768	0.89[MEX][hapmap]
rs9620769	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs9620770	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs9620778	1.00[ASW][hapmap]
rs9625378	0.82[EUR][1000 genomes]
rs9625390	0.89[YRI][hapmap]
rs9625391	1.00[ASW][hapmap];0.89[MEX][hapmap];0.89[YRI][hapmap]
rs9625399	0.89[YRI][hapmap]
rs9625400	0.89[YRI][hapmap]
rs9625403	0.89[YRI][hapmap]
rs9625405	0.89[YRI][hapmap]
rs9625408	0.89[YRI][hapmap]
rs9625413	0.89[YRI][hapmap]
rs9625416	0.89[YRI][hapmap]
rs9625417	0.89[YRI][hapmap]

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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28432000-28469000	Weak transcription	Primary T cells from cord blood	blood
2	chr22:28445200-28462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:28445200-28470400	Weak transcription	Pancreas	Pancrea
4	chr22:28445400-28470800	Weak transcription	Lung	lung
5	chr22:28445800-28462800	Weak transcription	Left Ventricle	heart
6	chr22:28446200-28467800	Weak transcription	Fetal Muscle Leg	muscle
7	chr22:28449600-28479200	Weak transcription	Brain Germinal Matrix	brain
8	chr22:28449600-28488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:28450000-28471400	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:28450400-28461000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:28450400-28464800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:28450400-28468200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr22:28450600-28461000	Weak transcription	Ovary	ovary
14	chr22:28450600-28468000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:28450600-28468200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:28450800-28462800	Weak transcription	Psoas Muscle	Psoas
17	chr22:28456800-28471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr22:28457000-28468000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr22:28457400-28471400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:28457600-28468600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:28458400-28471200	Weak transcription	Small Intestine	intestine
22	chr22:28459200-28461000	Weak transcription	Fetal Intestine Small	intestine
23	chr22:28459400-28461600	Strong transcription	Fetal Brain Female	brain
24	chr22:28459400-28471200	Weak transcription	Brain Anterior Caudate	brain
25	chr22:28459600-28471400	Weak transcription	HepG2	liver
26	chr22:28459800-28461400	Enhancers	HSMMtube	muscle
27	chr22:28459800-28466800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:28459800-28468200	Weak transcription	Gastric	stomach
29	chr22:28460000-28460800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:28460000-28465000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:28460000-28465600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:28460000-28466800	Weak transcription	Fetal Stomach	stomach
33	chr22:28460000-28467800	Weak transcription	Fetal Lung	lung
34	chr22:28460000-28468000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr22:28460000-28471200	Weak transcription	Aorta	Aorta
36	chr22:28460200-28462600	Weak transcription	Adipose Nuclei	Adipose
37	chr22:28460200-28464200	Strong transcription	Dnd41	blood
38	chr22:28460200-28465200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:28460200-28465200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr22:28460600-28462000	Enhancers	Fetal Intestine Large	intestine
41	chr22:28460600-28464200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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