Variant report

Variant	rs5753250
Chromosome Location	chr22:31020113-31020114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10439913	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1801198	0.81[ASN][1000 genomes]
rs1971653	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1981591	0.80[AMR][1000 genomes]
rs2009862	0.82[ASN][1000 genomes]
rs2072194	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267163	0.81[ASN][1000 genomes]
rs2267164	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2270013	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2301956	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3179442	0.81[ASN][1000 genomes]
rs3887855	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4375972	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4513384	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4820023	0.82[ASN][1000 genomes]
rs4820885	0.80[ASN][1000 genomes]
rs4820891	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5019308	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749141	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749144	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5749147	0.80[ASN][1000 genomes]
rs5749149	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753228	0.82[AMR][1000 genomes]
rs5753236	0.81[ASN][1000 genomes]
rs5753252	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753259	0.81[AMR][1000 genomes]
rs5994328	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5997704	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5997711	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5997714	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5997715	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8139950	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv3359938	chr22:31018577-31021325	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3418806	chr22:31018952-31021050	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:69 , 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	chr22:31004400-31020200	Weak transcription	Fetal Kidney	kidney
4	chr22:31005000-31022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:31006000-31020800	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr22:31006000-31023200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:31006000-31023200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:31006000-31030400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr22:31006000-31030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:31006000-31030600	Weak transcription	Colonic Mucosa	Colon
11	chr22:31006200-31023800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr22:31006200-31030600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr22:31006400-31023000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr22:31006400-31023200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:31006400-31023400	Strong transcription	Fetal Intestine Small	intestine
16	chr22:31006600-31030400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr22:31006800-31030200	Weak transcription	Placenta	Placenta
18	chr22:31007000-31030600	Weak transcription	Fetal Brain Male	brain
19	chr22:31007600-31030200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:31008000-31030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:31008400-31023200	Strong transcription	Adipose Nuclei	Adipose
22	chr22:31010200-31022400	Weak transcription	HUVEC	blood vessel
23	chr22:31011600-31024400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:31011600-31026000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:31011800-31030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:31011800-31030600	Weak transcription	Right Ventricle	heart
27	chr22:31012000-31023800	Weak transcription	Brain Anterior Caudate	brain
28	chr22:31012000-31030600	Weak transcription	Brain Angular Gyrus	brain
29	chr22:31012200-31024600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:31013000-31023200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr22:31013600-31030600	Weak transcription	Pancreas	Pancrea
32	chr22:31013800-31022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:31013800-31022600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr22:31013800-31030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:31014000-31030200	Weak transcription	Brain Substantia Nigra	brain
36	chr22:31014000-31030400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr22:31014000-31030800	Weak transcription	Gastric	stomach
38	chr22:31014000-31030800	Weak transcription	Ovary	ovary
39	chr22:31015000-31024200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:31015200-31020800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr22:31015800-31030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:31015800-31030600	Weak transcription	Fetal Lung	lung
43	chr22:31016000-31022000	Weak transcription	Fetal Intestine Large	intestine
44	chr22:31017000-31024000	Weak transcription	Brain Germinal Matrix	brain
45	chr22:31017000-31030400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr22:31017000-31030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:31017200-31030600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr22:31017600-31021800	Weak transcription	Brain Hippocampus Middle	brain
49	chr22:31017800-31024000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr22:31018800-31023000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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