Variant report

Variant	rs134551
Chromosome Location	chr22:28807625-28807626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1125250	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[ASN][1000 genomes]
rs1303845	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs134179	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs134180	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs134196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs134489	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs134500	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs134507	0.92[JPT][hapmap]
rs134522	0.82[CEU][hapmap]
rs134526	0.95[ASN][1000 genomes]
rs134529	0.84[CEU][hapmap]
rs134541	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs134543	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs134545	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs134548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2346397	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2346867	0.87[ASN][1000 genomes]
rs34593692	0.83[ASN][1000 genomes]
rs5752743	0.86[JPT][hapmap]
rs5762660	0.86[JPT][hapmap]
rs6005754	0.81[CEU][hapmap]
rs6005790	0.81[CEU][hapmap]
rs695272	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs695439	0.96[ASN][1000 genomes]
rs695567	0.81[CEU][hapmap]
rs695591	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs695625	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs695659	0.89[ASN][1000 genomes]
rs695762	0.89[ASN][1000 genomes]
rs695796	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs695797	0.94[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28793000-28808200	Weak transcription	Aorta	Aorta
2	chr22:28793000-28808600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr22:28793000-28814000	Weak transcription	Left Ventricle	heart
4	chr22:28793000-28819800	Weak transcription	Fetal Intestine Small	intestine
5	chr22:28798400-28809800	Weak transcription	Fetal Lung	lung
6	chr22:28798800-28821200	Weak transcription	Dnd41	blood
7	chr22:28801000-28810000	Weak transcription	Fetal Kidney	kidney
8	chr22:28804600-28810000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:28805000-28808200	Weak transcription	Ovary	ovary
10	chr22:28805200-28809600	Weak transcription	Fetal Stomach	stomach
11	chr22:28805200-28810400	Weak transcription	Fetal Brain Male	brain
12	chr22:28805800-28808000	Weak transcription	Psoas Muscle	Psoas
13	chr22:28805800-28808800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr22:28806000-28808000	Enhancers	Osteobl	bone
15	chr22:28806200-28807800	Enhancers	Rectal Smooth Muscle	rectum
16	chr22:28806200-28813000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:28806600-28808200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:28806600-28809800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr22:28806600-28809800	Weak transcription	HSMMtube	muscle
20	chr22:28806600-28810000	Weak transcription	NHLF	lung
21	chr22:28806800-28807800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:28806800-28808000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:28806800-28808200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:28806800-28809800	Weak transcription	Brain Substantia Nigra	brain
25	chr22:28806800-28809800	Weak transcription	HUVEC	blood vessel
26	chr22:28806800-28810000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:28806800-28815400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:28806800-28815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr22:28807000-28807800	Enhancers	Colon Smooth Muscle	Colon
30	chr22:28807200-28807800	Enhancers	Adipose Nuclei	Adipose
31	chr22:28807200-28808600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:28807200-28809800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:28807400-28808400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr22:28807400-28809600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:28807400-28821200	Weak transcription	Hela-S3	cervix
36	chr22:28807600-28808200	Weak transcription	Small Intestine	intestine
37	chr22:28807600-28808400	Enhancers	Brain Anterior Caudate	brain
38	chr22:28807600-28808400	Enhancers	Brain Cingulate Gyrus	brain
39	chr22:28807600-28808400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr22:28807600-28808800	Enhancers	Fetal Brain Female	brain
41	chr22:28807600-28809800	Weak transcription	NHDF-Ad	bronchial
42	chr22:28807600-28810000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr22:28807600-28810600	Weak transcription	Brain Angular Gyrus	brain
44	chr22:28807600-28814000	Weak transcription	Brain Germinal Matrix	brain

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