Variant report

Variant	rs12168392
Chromosome Location	chr22:31022301-31022302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12169610	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12485165	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4820886	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4820887	0.85[AMR][1000 genomes]
rs58963750	0.85[AMR][1000 genomes]
rs9621049	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
2	chr22:31003800-31030600	Weak transcription	Thymus	Thymus
3	chr22:31006000-31023200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:31006000-31023200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:31006000-31030400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr22:31006000-31030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:31006000-31030600	Weak transcription	Colonic Mucosa	Colon
8	chr22:31006200-31023800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:31006200-31030600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:31006400-31023000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:31006400-31023200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:31006400-31023400	Strong transcription	Fetal Intestine Small	intestine
13	chr22:31006600-31030400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:31006800-31030200	Weak transcription	Placenta	Placenta
15	chr22:31007000-31030600	Weak transcription	Fetal Brain Male	brain
16	chr22:31007600-31030200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:31008000-31030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:31008400-31023200	Strong transcription	Adipose Nuclei	Adipose
19	chr22:31010200-31022400	Weak transcription	HUVEC	blood vessel
20	chr22:31011600-31024400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr22:31011600-31026000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:31011800-31030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:31011800-31030600	Weak transcription	Right Ventricle	heart
24	chr22:31012000-31023800	Weak transcription	Brain Anterior Caudate	brain
25	chr22:31012000-31030600	Weak transcription	Brain Angular Gyrus	brain
26	chr22:31012200-31024600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:31013000-31023200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr22:31013600-31030600	Weak transcription	Pancreas	Pancrea
29	chr22:31013800-31022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:31013800-31022600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:31013800-31030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr22:31014000-31030200	Weak transcription	Brain Substantia Nigra	brain
33	chr22:31014000-31030400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr22:31014000-31030800	Weak transcription	Gastric	stomach
35	chr22:31014000-31030800	Weak transcription	Ovary	ovary
36	chr22:31015000-31024200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:31015800-31030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:31015800-31030600	Weak transcription	Fetal Lung	lung
39	chr22:31017000-31024000	Weak transcription	Brain Germinal Matrix	brain
40	chr22:31017000-31030400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr22:31017000-31030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr22:31017200-31030600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:31017800-31024000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr22:31018800-31023000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr22:31019000-31022400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr22:31019000-31030200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr22:31019200-31022400	Weak transcription	Spleen	Spleen
48	chr22:31019200-31022600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:31019200-31030200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr22:31019200-31030200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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