Variant report

Variant	rs8135379
Chromosome Location	chr22:31023893-31023894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11913239	0.80[ASN][1000 genomes]
rs11914089	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12168004	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13433541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988855	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs16988936	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs2009857	0.80[ASN][1000 genomes]
rs2013928	0.96[ASN][1000 genomes]
rs2072195	0.82[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs2267162	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs2267165	0.86[ASN][1000 genomes]
rs2267166	0.87[ASN][1000 genomes]
rs2283873	0.82[ASW][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.80[ASN][1000 genomes]
rs55844758	0.96[ASN][1000 genomes]
rs5994329	0.94[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs5997719	0.96[ASN][1000 genomes]
rs5997722	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs5997728	0.90[ASN][1000 genomes]
rs72558391	0.92[ASN][1000 genomes]
rs7288385	0.80[ASN][1000 genomes]
rs7288627	0.80[ASN][1000 genomes]
rs7290898	0.82[ASW][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap]
rs73396395	0.80[ASN][1000 genomes]
rs73398305	0.87[ASN][1000 genomes]
rs8135450	0.95[ASN][1000 genomes]
rs8141515	0.87[ASN][1000 genomes]
rs9306264	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606761	0.88[ASN][1000 genomes]
rs9606762	0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs9619128	0.91[ASN][1000 genomes]
rs9621051	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv966048	chr22:31023818-31024988	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	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	chr22:31006000-31030400	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	chr22:31011600-31024400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr22:31011600-31026000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:31011800-31030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:31011800-31030600	Weak transcription	Right Ventricle	heart
16	chr22:31012000-31030600	Weak transcription	Brain Angular Gyrus	brain
17	chr22:31012200-31024600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:31013600-31030600	Weak transcription	Pancreas	Pancrea
19	chr22:31013800-31030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:31014000-31030200	Weak transcription	Brain Substantia Nigra	brain
21	chr22:31014000-31030400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr22:31014000-31030800	Weak transcription	Gastric	stomach
23	chr22:31014000-31030800	Weak transcription	Ovary	ovary
24	chr22:31015000-31024200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:31015800-31030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:31015800-31030600	Weak transcription	Fetal Lung	lung
27	chr22:31017000-31024000	Weak transcription	Brain Germinal Matrix	brain
28	chr22:31017000-31030400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr22:31017000-31030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr22:31017200-31030600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:31017800-31024000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr22:31019000-31030200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr22:31019200-31030200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr22:31019200-31030200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr22:31019200-31030600	Weak transcription	Colon Smooth Muscle	Colon
36	chr22:31019200-31030600	Weak transcription	Left Ventricle	heart
37	chr22:31019200-31030800	Weak transcription	Lung	lung
38	chr22:31019600-31024000	Weak transcription	Fetal Muscle Leg	muscle
39	chr22:31019600-31024200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:31021600-31024600	Weak transcription	Right Atrium	heart
41	chr22:31021600-31026400	Enhancers	Fetal Heart	heart
42	chr22:31022400-31025000	Enhancers	HUVEC	blood vessel
43	chr22:31022800-31024200	Weak transcription	Brain Hippocampus Middle	brain
44	chr22:31023000-31024600	Weak transcription	Fetal Intestine Large	intestine
45	chr22:31023000-31030600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr22:31023000-31030600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:31023000-31030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr22:31023000-31030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr22:31023200-31024800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:31023200-31026000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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