Variant report

Variant	rs5997365
Chromosome Location	chr22:28826994-28826995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12157518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12159502	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16986103	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16986290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16986377	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35731009	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58427200	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997341	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5997355	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs5997363	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs5997367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997372	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005726	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6005733	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6005735	0.90[ASN][1000 genomes]
rs6005751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6005757	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs6005758	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6005765	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6005779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005780	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6005783	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6005789	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005793	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005829	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6005833	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6005834	0.81[ASN][1000 genomes]
rs73427747	0.90[ASN][1000 genomes]
rs73428082	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73428096	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73430108	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7510988	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28820800-28837400	Weak transcription	HSMMtube	muscle
2	chr22:28821000-28829000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr22:28821400-28831200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr22:28821400-28836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr22:28821600-28828400	Weak transcription	Dnd41	blood
6	chr22:28821600-28829000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:28822200-28837800	Weak transcription	Left Ventricle	heart
8	chr22:28822800-28828800	Weak transcription	Gastric	stomach
9	chr22:28823000-28837000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:28823600-28827000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:28823600-28828800	Weak transcription	Right Ventricle	heart
12	chr22:28825000-28827400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:28825200-28827000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:28825200-28827200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:28825200-28827200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr22:28825200-28827400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:28825400-28827200	Enhancers	Osteobl	bone
18	chr22:28825400-28827400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:28825800-28827200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr22:28825800-28827200	Enhancers	Adipose Nuclei	Adipose
21	chr22:28826200-28827000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:28826200-28827200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:28826200-28827200	Enhancers	Fetal Brain Female	brain
24	chr22:28826400-28827000	Enhancers	Stomach Smooth Muscle	stomach
25	chr22:28826400-28827200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:28826400-28827200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr22:28826400-28827200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr22:28826400-28827200	Enhancers	Brain Angular Gyrus	brain
29	chr22:28826400-28827200	Enhancers	Brain Anterior Caudate	brain
30	chr22:28826400-28827200	Enhancers	Brain Cingulate Gyrus	brain
31	chr22:28826400-28827200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr22:28826400-28827200	Enhancers	Ovary	ovary
33	chr22:28826400-28827200	Enhancers	Stomach Mucosa	stomach
34	chr22:28826400-28827200	Enhancers	NHDF-Ad	bronchial
35	chr22:28826600-28827200	Enhancers	Brain Germinal Matrix	brain
36	chr22:28826600-28827200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr22:28826600-28827800	Enhancers	Fetal Brain Male	brain
38	chr22:28826800-28827000	Flanking Active TSS	Fetal Lung	lung
39	chr22:28826800-28827200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:28826800-28827200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr22:28826800-28827200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:28826800-28827200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:28826800-28827200	Enhancers	Colon Smooth Muscle	Colon
44	chr22:28826800-28827200	Enhancers	Psoas Muscle	Psoas
45	chr22:28826800-28827200	Enhancers	HepG2	liver

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