Variant report

Variant	rs715517
Chromosome Location	chr22:28643456-28643457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1303845	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134172	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs134179	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134180	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134188	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134196	0.92[ASN][1000 genomes]
rs134489	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs134500	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2223370	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4822952	0.82[ASN][1000 genomes]
rs7284814	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8140229	0.87[EUR][1000 genomes];0.85[ASN][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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28635600-28650800	Weak transcription	Dnd41	blood
3	chr22:28639400-28643600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:28639400-28643800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:28639400-28644000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr22:28639400-28644200	Enhancers	Osteobl	bone
7	chr22:28639400-28645800	Enhancers	Fetal Heart	heart
8	chr22:28639600-28644000	Enhancers	NH-A	brain
9	chr22:28640800-28644000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr22:28640800-28644200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr22:28640800-28646200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:28641000-28643800	Weak transcription	Right Atrium	heart
13	chr22:28641000-28644000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:28641000-28645600	Weak transcription	Aorta	Aorta
15	chr22:28641000-28646800	Weak transcription	Small Intestine	intestine
16	chr22:28641000-28655800	Weak transcription	Fetal Kidney	kidney
17	chr22:28641200-28648400	Weak transcription	Fetal Brain Male	brain
18	chr22:28641400-28643600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:28641400-28644000	Enhancers	NHLF	lung
20	chr22:28641400-28644200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr22:28641600-28645000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:28641800-28644200	Weak transcription	Stomach Mucosa	stomach
23	chr22:28641800-28644600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr22:28641800-28644600	Weak transcription	Fetal Intestine Small	intestine
25	chr22:28642000-28643600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr22:28642000-28648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr22:28642400-28643600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
28	chr22:28642400-28644400	Enhancers	Fetal Stomach	stomach
29	chr22:28642400-28646800	Enhancers	K562	blood
30	chr22:28642400-28649400	Weak transcription	Fetal Intestine Large	intestine
31	chr22:28642600-28644400	Enhancers	Psoas Muscle	Psoas
32	chr22:28642600-28644600	Weak transcription	A549	lung
33	chr22:28642800-28643600	Enhancers	Adipose Nuclei	Adipose
34	chr22:28642800-28643600	Weak transcription	Colon Smooth Muscle	Colon
35	chr22:28642800-28643600	Flanking Active TSS	NHDF-Ad	bronchial
36	chr22:28642800-28644600	Enhancers	Brain Substantia Nigra	brain
37	chr22:28642800-28645000	Enhancers	Brain Anterior Caudate	brain
38	chr22:28642800-28647400	Weak transcription	HepG2	liver
39	chr22:28643000-28643600	Enhancers	Fetal Muscle Trunk	muscle
40	chr22:28643000-28644000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr22:28643000-28644200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:28643000-28644200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:28643000-28644200	Enhancers	Left Ventricle	heart
44	chr22:28643000-28644400	Enhancers	Fetal Muscle Leg	muscle
45	chr22:28643000-28644400	Enhancers	Gastric	stomach
46	chr22:28643000-28645200	Enhancers	Brain Hippocampus Middle	brain
47	chr22:28643200-28643800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:28643200-28644000	Enhancers	Brain Cingulate Gyrus	brain
49	chr22:28643200-28644200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
50	chr22:28643200-28644400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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