Variant report

Variant	rs9620770
Chromosome Location	chr22:28508216-28508217
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28508081..28510414-chr22:28531176..28532901,2	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10154425	1.00[ASW][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212007	0.90[AMR][1000 genomes];0.87[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	0.88[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10483143	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs118840	1.00[CHD][hapmap];0.81[EUR][1000 genomes]
rs12166023	0.89[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166077	1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.86[EUR][1000 genomes]
rs12166158	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166164	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12166253	1.00[ASN][1000 genomes]
rs12166256	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12166719	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166740	0.89[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes]
rs12166912	0.89[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166938	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12167735	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHD][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs12168054	0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168180	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12168251	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12168652	1.00[ASN][1000 genomes]
rs12169888	0.86[EUR][1000 genomes]
rs12170022	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170558	0.88[CEU][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12170953	0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs134194	1.00[ASW][hapmap];1.00[CHD][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][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	0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs138653	0.89[YRI][hapmap];0.81[EUR][1000 genomes]
rs138654	0.86[EUR][1000 genomes]
rs138655	0.86[EUR][1000 genomes]
rs138656	0.86[EUR][1000 genomes]
rs138658	0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs138660	1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.86[EUR][1000 genomes]
rs138664	1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.86[EUR][1000 genomes]
rs138665	0.86[EUR][1000 genomes]
rs138667	0.86[EUR][1000 genomes]
rs138670	0.81[EUR][1000 genomes]
rs138671	0.86[EUR][1000 genomes]
rs138672	0.86[EUR][1000 genomes]
rs138679	0.88[MEX][hapmap]
rs16985967	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];0.85[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16985976	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986037	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16986077	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987005	0.89[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407024	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483887	1.00[ASW][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs17484337	0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs2143420	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs2745562	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28375646	0.86[EUR][1000 genomes]
rs28579300	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4036493	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs470098	0.81[EUR][1000 genomes]
rs470102	1.00[CHD][hapmap];0.86[GIH][hapmap];0.86[EUR][1000 genomes]
rs470103	1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.86[EUR][1000 genomes]
rs470104	0.86[EUR][1000 genomes]
rs55856549	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233401	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393679	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57686964	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58823697	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59103380	0.84[AFR][1000 genomes]
rs59846801	0.84[AFR][1000 genomes]
rs7286519	0.86[EUR][1000 genomes]
rs73880374	0.86[EUR][1000 genomes]
rs73880375	0.86[EUR][1000 genomes]
rs73880376	0.86[EUR][1000 genomes]
rs73880381	0.86[EUR][1000 genomes]
rs73880382	0.92[EUR][1000 genomes]
rs73880383	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880384	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880385	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73880387	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73880391	1.00[ASN][1000 genomes]
rs73880393	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882704	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882705	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882709	1.00[ASN][1000 genomes]
rs761322	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761323	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306451	0.88[CEU][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9306452	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]
rs9620762	1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.86[EUR][1000 genomes]
rs9620764	1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.86[EUR][1000 genomes]
rs9620766	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620767	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620768	0.89[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9620769	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620771	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620778	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs9620779	1.00[ASN][1000 genomes]
rs9625387	0.86[EUR][1000 genomes]
rs9625388	0.86[EUR][1000 genomes]
rs9625390	0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs9625391	1.00[ASW][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.89[YRI][hapmap];0.84[EUR][1000 genomes]
rs9625393	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625394	1.00[ASN][1000 genomes]
rs9625395	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625396	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625397	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625398	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625399	0.88[CEU][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625400	0.86[CEU][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625402	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625403	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625405	0.88[CEU][hapmap];0.89[YRI][hapmap];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	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625408	0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625409	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625410	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625413	0.89[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625415	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9625416	0.89[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625417	0.89[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625418	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625421	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625425	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625427	0.86[AMR][1000 genomes];0.84[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];1.00[EUR][1000 genomes]
rs988893	0.83[AMR][1000 genomes];0.86[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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28485800-28508600	Weak transcription	Brain Substantia Nigra	brain
2	chr22:28486400-28508600	Weak transcription	Psoas Muscle	Psoas
3	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:28489800-28508400	Weak transcription	Small Intestine	intestine
5	chr22:28495000-28508400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:28495000-28508400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:28495000-28508600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr22:28495200-28508600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr22:28496600-28517200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr22:28497200-28508600	Weak transcription	Stomach Mucosa	stomach
11	chr22:28498200-28510800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:28499800-28508400	Weak transcription	HSMMtube	muscle
13	chr22:28500200-28508400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:28500400-28508600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:28501400-28512600	Weak transcription	Fetal Kidney	kidney
16	chr22:28501600-28508600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:28501600-28512000	Weak transcription	Esophagus	oesophagus
18	chr22:28501600-28517000	Weak transcription	Brain Angular Gyrus	brain
19	chr22:28501800-28508600	Weak transcription	Fetal Thymus	thymus
20	chr22:28502000-28515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:28502400-28508600	Weak transcription	Gastric	stomach
22	chr22:28502400-28508600	Weak transcription	Spleen	Spleen
23	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
24	chr22:28503200-28509000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr22:28504200-28508400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr22:28504200-28508800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr22:28504200-28510800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:28504200-28514600	Weak transcription	Brain Germinal Matrix	brain
29	chr22:28504400-28508400	Weak transcription	Fetal Brain Male	brain
30	chr22:28504400-28508400	Weak transcription	Fetal Intestine Small	intestine
31	chr22:28504400-28508400	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:28504400-28508600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:28504400-28508600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr22:28504400-28508600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr22:28504400-28508600	Weak transcription	Left Ventricle	heart
36	chr22:28504400-28512200	Weak transcription	Aorta	Aorta
37	chr22:28504400-28513200	Weak transcription	HepG2	liver
38	chr22:28504400-28516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr22:28505200-28512800	Weak transcription	Dnd41	blood
40	chr22:28505400-28510200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:28506400-28510000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:28507000-28509200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:28507000-28509800	Enhancers	Osteobl	bone
44	chr22:28507200-28509400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr22:28507200-28509600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:28507200-28509600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:28507200-28509600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:28507200-28510400	Enhancers	Fetal Lung	lung
49	chr22:28507400-28508600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:28507400-28509400	Enhancers	HUES64 Cell Line	embryonic stem cell

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