Variant report

Variant	rs16985691
Chromosome Location	chr22:28293280-28293281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10483138	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483140	0.84[YRI][hapmap]
rs11090518	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs118840	0.89[MEX][hapmap]
rs12166069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166389	0.84[YRI][hapmap]
rs12168582	1.00[CHD][hapmap];0.89[MEX][hapmap]
rs12168796	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170186	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170294	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170737	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12330032	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138636	0.89[MEX][hapmap]
rs138639	0.89[MEX][hapmap]
rs138646	0.89[MEX][hapmap]
rs16985666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985697	1.00[CEU][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985700	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16985704	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985705	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985706	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985707	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985718	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470101	0.89[MEX][hapmap]
rs58520548	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59807513	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8140760	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142319	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142920	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs926467	0.89[MEX][hapmap]
rs926468	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306449	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306450	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620745	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620747	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620752	0.84[YRI][hapmap]
rs9625345	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625346	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625347	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625348	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625349	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625350	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625351	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625352	1.00[CEU][hapmap];0.81[LWK][hapmap];0.89[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625357	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr22:28277400-28300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr22:28277800-28308400	Strong transcription	Dnd41	blood
5	chr22:28278400-28298800	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr22:28278400-28299000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr22:28278600-28299000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr22:28278600-28299600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr22:28278600-28299800	Strong transcription	Primary T cells from cord blood	blood
10	chr22:28278600-28300600	Strong transcription	Fetal Muscle Leg	muscle
11	chr22:28279000-28299600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr22:28279000-28300000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:28279400-28298400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr22:28279600-28298400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr22:28279600-28298600	Strong transcription	Primary B cells from cord blood	blood
16	chr22:28279600-28299000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr22:28279800-28295400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:28280600-28308000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:28281600-28298600	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr22:28281600-28308000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr22:28281800-28295800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:28283000-28307000	Strong transcription	Fetal Intestine Large	intestine
23	chr22:28283200-28295400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:28283200-28298800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr22:28283200-28300000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:28283200-28307600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr22:28283400-28294000	Strong transcription	Fetal Lung	lung
28	chr22:28283400-28298400	Strong transcription	HMEC	breast
29	chr22:28283600-28300400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:28283600-28310000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr22:28283800-28295400	Strong transcription	HSMM	muscle
32	chr22:28283800-28298400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr22:28283800-28298600	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr22:28283800-28298800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:28283800-28299600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:28283800-28304200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr22:28283800-28304200	Strong transcription	Fetal Thymus	thymus
38	chr22:28283800-28308000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr22:28284000-28295200	Strong transcription	NH-A	brain
40	chr22:28284000-28295600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:28284000-28299000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr22:28284000-28299200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:28284000-28300600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr22:28284200-28295400	Strong transcription	NHLF	lung
45	chr22:28284200-28300000	Strong transcription	NHDF-Ad	bronchial
46	chr22:28284600-28294000	Strong transcription	Brain Germinal Matrix	brain
47	chr22:28284800-28293600	Strong transcription	Adipose Nuclei	Adipose
48	chr22:28284800-28298400	Strong transcription	Osteobl	bone
49	chr22:28285000-28301800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:28285800-28298800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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