Variant report

Variant	rs997567
Chromosome Location	chr22:29397998-29397999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10483152	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11704960	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12484882	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13055470	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17518058	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34293193	0.86[EUR][1000 genomes]
rs5762925	0.87[EUR][1000 genomes]
rs7290686	0.92[EUR][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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
3	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:29379600-29400800	Weak transcription	Fetal Brain Female	brain
5	chr22:29380800-29400800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr22:29381200-29400400	Weak transcription	Lung	lung
7	chr22:29382000-29400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr22:29383400-29400200	Weak transcription	Right Atrium	heart
9	chr22:29383600-29400400	Weak transcription	Aorta	Aorta
10	chr22:29383800-29399800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:29383800-29400000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr22:29385600-29400800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:29385600-29401000	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:29386200-29400000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr22:29388600-29400400	Weak transcription	Placenta	Placenta
16	chr22:29388800-29399200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr22:29388800-29400200	Weak transcription	Brain Germinal Matrix	brain
18	chr22:29388800-29400800	Weak transcription	Gastric	stomach
19	chr22:29389000-29400000	Weak transcription	Brain Substantia Nigra	brain
20	chr22:29389200-29400000	Weak transcription	Brain Hippocampus Middle	brain
21	chr22:29389400-29399800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:29389400-29400000	Weak transcription	Liver	Liver
23	chr22:29389600-29398000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr22:29389600-29398200	Weak transcription	HSMMtube	muscle
25	chr22:29389600-29399800	Weak transcription	Brain Angular Gyrus	brain
26	chr22:29389800-29398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr22:29389800-29399600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr22:29389800-29400000	Weak transcription	Fetal Intestine Large	intestine
29	chr22:29390000-29400000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:29390000-29400000	Weak transcription	Fetal Intestine Small	intestine
31	chr22:29390000-29400000	Weak transcription	Fetal Stomach	stomach
32	chr22:29395000-29398200	Weak transcription	Brain Anterior Caudate	brain
33	chr22:29395800-29398000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:29395800-29398000	Weak transcription	Fetal Muscle Leg	muscle
35	chr22:29395800-29398600	Weak transcription	Left Ventricle	heart
36	chr22:29396000-29398400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr22:29396000-29398800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:29396000-29399600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr22:29396000-29400000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:29396000-29400000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr22:29396000-29401400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr22:29396200-29398200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr22:29396200-29398800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:29396200-29399600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:29396200-29399800	Weak transcription	HMEC	breast
46	chr22:29396200-29400000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr22:29396200-29400800	Weak transcription	Adipose Nuclei	Adipose
48	chr22:29396200-29401000	Weak transcription	HSMM	muscle
49	chr22:29396400-29398000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:29396400-29399800	Weak transcription	NHEK	skin

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