Variant report

Variant	rs134500
Chromosome Location	chr22:28740583-28740584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28737276..28738868-chr22:28739288..28741604,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1303845	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134172	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134183	0.96[CEU][hapmap]
rs134188	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs134196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs134489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134491	0.84[EUR][1000 genomes]
rs134507	1.00[CEU][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs134526	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs134541	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs134543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs134548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs134551	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17503350	0.95[CEU][hapmap]
rs2223370	0.90[EUR][1000 genomes]
rs2346397	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4822952	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs5752743	0.86[JPT][hapmap]
rs5762629	0.84[CEU][hapmap]
rs5762660	0.86[JPT][hapmap]
rs695439	0.82[EUR][1000 genomes]
rs695591	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs695625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs695797	0.82[EUR][1000 genomes]
rs715517	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7284814	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8140229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28735000-28740600	Weak transcription	Fetal Stomach	stomach
2	chr22:28736000-28744200	Weak transcription	Lung	lung
3	chr22:28736200-28740800	Weak transcription	Fetal Kidney	kidney
4	chr22:28736400-28746600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:28737200-28742200	Weak transcription	Fetal Brain Female	brain
6	chr22:28737200-28742600	Weak transcription	Dnd41	blood
7	chr22:28737200-28747200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr22:28737400-28740600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr22:28737400-28744000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:28737600-28740600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:28737600-28740600	Weak transcription	Osteobl	bone
12	chr22:28737600-28740800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr22:28737600-28740800	Weak transcription	Adipose Nuclei	Adipose
14	chr22:28737600-28741000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr22:28737600-28741400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:28737600-28741400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr22:28737800-28744800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:28738000-28740600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr22:28738000-28740600	Weak transcription	NHDF-Ad	bronchial
20	chr22:28738000-28751600	Weak transcription	Left Ventricle	heart
21	chr22:28738800-28744200	Weak transcription	Fetal Brain Male	brain
22	chr22:28739400-28741400	Weak transcription	Psoas Muscle	Psoas
23	chr22:28739600-28741600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:28739600-28741800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:28739600-28741800	Enhancers	HMEC	breast
26	chr22:28739600-28741800	Enhancers	NHEK	skin
27	chr22:28740000-28740800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:28740200-28740800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:28740200-28740800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:28740200-28741400	Enhancers	Brain Hippocampus Middle	brain
31	chr22:28740200-28741600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:28740200-28742400	Enhancers	Colon Smooth Muscle	Colon
33	chr22:28740200-28743000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr22:28740400-28741600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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