Variant report

Variant	rs8142319
Chromosome Location	chr22:28272849-28272850
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10483138	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11090518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12165651	0.84[AFR][1000 genomes]
rs12166069	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12168796	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170294	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12330032	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985666	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985691	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985697	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985700	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985704	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985707	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985718	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58520548	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59807513	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7288331	0.82[AFR][1000 genomes]
rs8140760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142920	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9306449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9306450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620746	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620747	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620755	0.84[AFR][1000 genomes]
rs9625345	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625346	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625347	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625348	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625349	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625351	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625352	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625357	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625367	0.84[AFR][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	chr22:28243800-28274000	Strong transcription	Dnd41	blood
2	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
5	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
6	chr22:28258200-28275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:28259200-28279800	Weak transcription	Esophagus	oesophagus
8	chr22:28259600-28279600	Weak transcription	Gastric	stomach
9	chr22:28263200-28273200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr22:28263400-28275400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr22:28263600-28273200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr22:28263600-28279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr22:28263800-28279800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:28264400-28276200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr22:28264600-28273800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:28264800-28273000	Strong transcription	NH-A	brain
17	chr22:28264800-28274000	Strong transcription	NHEK	skin
18	chr22:28264800-28275400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:28265200-28273000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:28265200-28274000	Weak transcription	Fetal Kidney	kidney
21	chr22:28265200-28275200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:28265600-28273400	Strong transcription	HMEC	breast
23	chr22:28266800-28275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:28266800-28279800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr22:28267000-28274200	Strong transcription	HUVEC	blood vessel
26	chr22:28267200-28276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:28267400-28273000	Genic enhancers	Fetal Intestine Small	intestine
28	chr22:28267600-28273000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:28267600-28277200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr22:28268000-28276200	Weak transcription	HepG2	liver
31	chr22:28268000-28279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:28268200-28279800	Weak transcription	Pancreas	Pancrea
33	chr22:28268600-28274400	Enhancers	Fetal Heart	heart
34	chr22:28268600-28275600	Enhancers	Brain Substantia Nigra	brain
35	chr22:28268600-28279800	Enhancers	Rectal Smooth Muscle	rectum
36	chr22:28268800-28273000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:28268800-28275000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr22:28269000-28274000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr22:28269000-28274800	Enhancers	Brain Anterior Caudate	brain
40	chr22:28269000-28275400	Enhancers	Brain Hippocampus Middle	brain
41	chr22:28269400-28273200	Genic enhancers	GM12878-XiMat	blood
42	chr22:28269400-28274400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:28269600-28273000	Enhancers	Ovary	ovary
44	chr22:28269800-28274400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:28269800-28275000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr22:28269800-28279800	Weak transcription	Hela-S3	cervix
47	chr22:28270000-28273600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr22:28270000-28274800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr22:28270000-28274800	Enhancers	Brain Cingulate Gyrus	brain
50	chr22:28270000-28275600	Enhancers	Colon Smooth Muscle	Colon

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