Variant report

Variant	rs9306452
Chromosome Location	chr22:28497820-28497821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10154425	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212007	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10212036	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212040	0.84[AMR][1000 genomes]
rs10212074	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10212083	1.00[ASN][1000 genomes]
rs10483142	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10483143	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs118840	1.00[CHD][hapmap];0.81[EUR][1000 genomes]
rs12166023	0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166077	0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs12166158	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166164	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12166253	1.00[ASN][1000 genomes]
rs12166256	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12166719	0.86[CEU][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12166740	1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs12166912	0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166938	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12167735	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs12168054	0.87[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168180	0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12168251	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12168652	1.00[ASN][1000 genomes]
rs12169888	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12170022	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170558	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12170953	0.87[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs134194	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs134197	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs138636	1.00[CHD][hapmap];0.81[EUR][1000 genomes]
rs138637	0.81[EUR][1000 genomes]
rs138639	1.00[CHD][hapmap];0.81[EUR][1000 genomes]
rs138640	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs138642	0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs138651	0.85[CEU][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs138653	0.87[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs138654	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs138655	0.86[EUR][1000 genomes]
rs138656	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs138658	0.87[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs138660	0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs138664	0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs138665	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs138667	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs138670	0.81[EUR][1000 genomes]
rs138671	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs138672	0.86[EUR][1000 genomes]
rs138679	0.88[MEX][hapmap]
rs16985967	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16985976	0.87[CEU][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986037	1.00[ASW][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16986077	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987005	0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407024	0.85[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483887	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.87[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs17484337	0.87[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2143420	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs2745562	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28375646	0.86[EUR][1000 genomes]
rs28579300	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4036493	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs470098	0.81[EUR][1000 genomes]
rs470102	0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs470103	0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs470104	0.86[EUR][1000 genomes]
rs55856549	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233401	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393679	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57686964	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58823697	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286519	0.86[EUR][1000 genomes]
rs73880374	0.86[EUR][1000 genomes]
rs73880375	0.86[EUR][1000 genomes]
rs73880376	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73880381	0.86[EUR][1000 genomes]
rs73880382	0.92[EUR][1000 genomes]
rs73880383	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880384	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880385	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73880387	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73880391	1.00[ASN][1000 genomes]
rs73880393	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880395	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882704	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882705	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882709	1.00[ASN][1000 genomes]
rs761322	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761323	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306451	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620762	0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs9620764	0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs9620766	0.87[CEU][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9620767	0.87[CEU][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9620768	1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620769	1.00[ASW][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620770	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620771	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620778	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs9620779	1.00[ASN][1000 genomes]
rs9625387	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs9625388	0.86[EUR][1000 genomes]
rs9625390	0.86[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9625391	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9625393	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625394	1.00[ASN][1000 genomes]
rs9625395	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9625396	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625397	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625398	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625399	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625400	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625402	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625403	0.87[CEU][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625405	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625406	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625407	1.00[ASN][1000 genomes]
rs9625408	0.87[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625409	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625410	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625413	0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625415	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9625416	0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9625417	0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9625418	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625421	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625425	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625427	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9625430	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9625433	1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs9625437	1.00[ASN][1000 genomes]
rs9625441	1.00[ASN][1000 genomes]
rs9712839	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs988893	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[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	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28466600-28503600	Weak transcription	Hela-S3	cervix
2	chr22:28472000-28499000	Weak transcription	NHDF-Ad	bronchial
3	chr22:28472200-28498600	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:28472800-28501000	Weak transcription	Gastric	stomach
5	chr22:28483600-28500000	Weak transcription	Spleen	Spleen
6	chr22:28485800-28501400	Strong transcription	Dnd41	blood
7	chr22:28485800-28508600	Weak transcription	Brain Substantia Nigra	brain
8	chr22:28486000-28507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:28486200-28504400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:28486200-28504800	Weak transcription	Osteobl	bone
11	chr22:28486400-28508600	Weak transcription	Psoas Muscle	Psoas
12	chr22:28486600-28498400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr22:28486600-28499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:28486600-28499400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr22:28486800-28498600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr22:28487400-28501200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr22:28487600-28504400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr22:28487800-28505000	Weak transcription	Colonic Mucosa	Colon
20	chr22:28488200-28499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:28488800-28501000	Weak transcription	Brain Hippocampus Middle	brain
22	chr22:28489000-28499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:28489000-28508200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr22:28489600-28500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:28489800-28508400	Weak transcription	Small Intestine	intestine
26	chr22:28490400-28498600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:28490400-28499200	Strong transcription	Fetal Muscle Leg	muscle
28	chr22:28490400-28499400	Weak transcription	HSMM	muscle
29	chr22:28490400-28499400	Weak transcription	HSMMtube	muscle
30	chr22:28490600-28499400	Weak transcription	Fetal Heart	heart
31	chr22:28490600-28504400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:28490800-28499200	Weak transcription	Esophagus	oesophagus
33	chr22:28491200-28503000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr22:28491600-28502000	Strong transcription	Fetal Intestine Large	intestine
35	chr22:28491800-28499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:28492000-28498000	Strong transcription	Aorta	Aorta
37	chr22:28492200-28499000	Weak transcription	Placenta	Placenta
38	chr22:28492600-28503200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:28492800-28501400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:28493400-28499000	Weak transcription	NHLF	lung
41	chr22:28493600-28504200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr22:28493800-28502000	Strong transcription	Fetal Intestine Small	intestine
43	chr22:28494400-28498000	Strong transcription	Fetal Stomach	stomach
44	chr22:28494400-28503800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:28495000-28500200	Weak transcription	Brain Anterior Caudate	brain
46	chr22:28495000-28504000	Weak transcription	Fetal Brain Male	brain
47	chr22:28495000-28507600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:28495000-28508400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:28495000-28508400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr22:28495000-28508600	Weak transcription	Rectal Mucosa Donor 31	rectum

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