Variant report

Variant	rs16986925
Chromosome Location	chr22:29378887-29378888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11912198	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs12627758	0.87[YRI][hapmap]
rs16986908	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986912	1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986971	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986990	1.00[MEX][hapmap];0.89[MKK][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5752850	1.00[EUR][1000 genomes]
rs5762926	1.00[EUR][1000 genomes]
rs5762930	1.00[MEX][hapmap];0.89[EUR][1000 genomes]
rs5762931	1.00[MEX][hapmap];0.89[EUR][1000 genomes]
rs5762938	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs5997413	1.00[ASN][1000 genomes]
rs7292372	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73882436	1.00[ASN][1000 genomes]
rs73882438	1.00[ASN][1000 genomes]
rs8137391	1.00[MEX][hapmap];0.89[MKK][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29366000-29379000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr22:29372400-29379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:29373400-29381400	Weak transcription	Fetal Stomach	stomach
5	chr22:29373400-29390800	Weak transcription	Hela-S3	cervix
6	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr22:29373800-29379000	Weak transcription	Placenta	Placenta
8	chr22:29374200-29379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:29374200-29381600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr22:29374200-29383000	Weak transcription	Ovary	ovary
11	chr22:29374400-29379200	Weak transcription	Fetal Lung	lung
12	chr22:29374400-29395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:29374600-29379000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:29374600-29379200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr22:29374600-29379200	Weak transcription	Aorta	Aorta
16	chr22:29374600-29379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:29374600-29380600	Weak transcription	Right Atrium	heart
18	chr22:29374600-29381400	Enhancers	Liver	Liver
19	chr22:29374600-29385000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr22:29374600-29395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
22	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr22:29374800-29384400	Weak transcription	Osteobl	bone
24	chr22:29375000-29379000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:29375200-29385200	Weak transcription	Brain Substantia Nigra	brain
26	chr22:29375400-29379200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:29375400-29379600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:29375600-29379000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:29375600-29383000	Weak transcription	Left Ventricle	heart
30	chr22:29375600-29390800	Weak transcription	NHDF-Ad	bronchial
31	chr22:29375800-29379200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:29375800-29379200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:29375800-29379200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr22:29375800-29379200	Weak transcription	Esophagus	oesophagus
35	chr22:29375800-29379200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr22:29375800-29379200	Weak transcription	Lung	lung
37	chr22:29375800-29379800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr22:29375800-29381400	Weak transcription	Fetal Intestine Small	intestine
39	chr22:29375800-29383000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr22:29375800-29383200	Weak transcription	Brain Hippocampus Middle	brain
41	chr22:29375800-29383200	Weak transcription	Fetal Intestine Large	intestine
42	chr22:29375800-29395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:29376000-29379000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr22:29376200-29379200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr22:29376200-29379200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr22:29376400-29379000	Weak transcription	Adipose Nuclei	Adipose
47	chr22:29376600-29379000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:29376600-29383600	Weak transcription	K562	blood
49	chr22:29376600-29384200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:29377200-29379200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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