Variant report

Variant	rs4513384
Chromosome Location	chr22:31029242-31029243
allele	C/T
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:33)

rs_ID	r²[population]
rs1076301	0.95[ASN][1000 genomes]
rs11089468	0.88[ASN][1000 genomes]
rs12159167	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13056901	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1971653	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1981590	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1981591	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2072194	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2078976	0.86[ASN][1000 genomes]
rs2240002	0.81[ASN][1000 genomes]
rs2267164	0.80[EUR][1000 genomes]
rs2270013	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3179442	0.97[ASN][1000 genomes]
rs3887855	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4375972	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4820023	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4820891	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5019308	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749141	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749144	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749147	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749149	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753250	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753252	0.83[ASN][1000 genomes]
rs5753259	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753265	0.86[ASN][1000 genomes]
rs5994328	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997711	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997714	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5997715	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757027	0.90[ASN][1000 genomes]
rs8138932	0.85[EUR][1000 genomes]
rs8139950	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv829172	chr22:31024057-31032291	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 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	chr22:31006000-31030400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:31006000-31030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:31006000-31030600	Weak transcription	Colonic Mucosa	Colon
6	chr22:31006200-31030600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr22:31006600-31030400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr22:31006800-31030200	Weak transcription	Placenta	Placenta
9	chr22:31007000-31030600	Weak transcription	Fetal Brain Male	brain
10	chr22:31007600-31030200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:31008000-31030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:31011800-31030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:31011800-31030600	Weak transcription	Right Ventricle	heart
14	chr22:31012000-31030600	Weak transcription	Brain Angular Gyrus	brain
15	chr22:31013600-31030600	Weak transcription	Pancreas	Pancrea
16	chr22:31013800-31030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:31014000-31030200	Weak transcription	Brain Substantia Nigra	brain
18	chr22:31014000-31030400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr22:31014000-31030800	Weak transcription	Gastric	stomach
20	chr22:31014000-31030800	Weak transcription	Ovary	ovary
21	chr22:31015800-31030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:31015800-31030600	Weak transcription	Fetal Lung	lung
23	chr22:31017000-31030400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr22:31017000-31030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:31017200-31030600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:31019000-31030200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr22:31019200-31030200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr22:31019200-31030200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:31019200-31030600	Weak transcription	Colon Smooth Muscle	Colon
30	chr22:31019200-31030600	Weak transcription	Left Ventricle	heart
31	chr22:31019200-31030800	Weak transcription	Lung	lung
32	chr22:31023000-31030600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr22:31023000-31030600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:31023000-31030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr22:31023000-31030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr22:31023200-31029600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr22:31023200-31030200	Weak transcription	Fetal Stomach	stomach
38	chr22:31023200-31030400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:31023200-31030400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:31023200-31030400	Weak transcription	Liver	Liver
41	chr22:31023200-31030600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr22:31023200-31030600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:31023200-31030600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr22:31023200-31030600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:31023200-31030600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:31023200-31030600	Weak transcription	Adipose Nuclei	Adipose
47	chr22:31023200-31030600	Weak transcription	Fetal Brain Female	brain
48	chr22:31024000-31030600	Weak transcription	Spleen	Spleen
49	chr22:31024400-31030200	Weak transcription	Brain Anterior Caudate	brain
50	chr22:31024800-31030200	Weak transcription	Brain Inferior Temporal Lobe	brain

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