Variant report

Variant	rs131231
Chromosome Location	chr22:32116383-32116384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32115681..32117567-chr22:32133569..32136551,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10483160	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1076674	0.92[MEX][hapmap]
rs11089522	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11702881	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11703079	0.92[MEX][hapmap]
rs11703246	0.82[CHB][hapmap]
rs11705329	0.84[MEX][hapmap]
rs131221	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131237	0.92[MEX][hapmap]
rs131243	0.84[MEX][hapmap]
rs131254	0.84[MEX][hapmap]
rs140079	0.92[MEX][hapmap]
rs16989291	0.92[MEX][hapmap]
rs16989374	0.92[MEX][hapmap]
rs16989495	1.00[JPT][hapmap]
rs16989498	1.00[JPT][hapmap]
rs16989528	1.00[JPT][hapmap]
rs16989571	1.00[JPT][hapmap]
rs16989610	1.00[JPT][hapmap]
rs3804088	0.92[MEX][hapmap]
rs41420645	1.00[JPT][hapmap]
rs5994419	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5998068	0.92[MEX][hapmap]
rs5998069	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5998074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5998078	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5998098	0.92[MEX][hapmap]
rs5998114	0.84[MEX][hapmap]
rs5998115	0.82[CHB][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.91[ASN][1000 genomes]
rs7286557	1.00[JPT][hapmap]
rs7291674	1.00[JPT][hapmap]
rs760908	0.80[MEX][hapmap]
rs917207	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060929	chr22:32102701-32176860	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs131231	SYN3	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32078800-32126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:32080400-32121400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:32081200-32126400	Weak transcription	Stomach Mucosa	stomach
4	chr22:32089400-32126000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:32102800-32123000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:32103000-32125000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr22:32105000-32121400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:32105000-32124000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:32105000-32124200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr22:32105200-32123600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:32105400-32124200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr22:32105800-32123200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr22:32105800-32124600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr22:32105800-32125000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr22:32106200-32117000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:32106400-32122800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:32106600-32116600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr22:32107600-32124000	Strong transcription	Placenta	Placenta
19	chr22:32109600-32128200	Weak transcription	Pancreas	Pancrea
20	chr22:32111200-32120000	Weak transcription	Fetal Brain Male	brain
21	chr22:32111600-32120400	Weak transcription	Esophagus	oesophagus
22	chr22:32111800-32119000	Weak transcription	Gastric	stomach
23	chr22:32111800-32122800	Weak transcription	Right Ventricle	heart
24	chr22:32112000-32120600	Weak transcription	NHLF	lung
25	chr22:32112200-32118600	Weak transcription	Fetal Heart	heart
26	chr22:32112200-32142000	Weak transcription	Hela-S3	cervix
27	chr22:32112200-32145000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr22:32113000-32119600	Weak transcription	Brain Germinal Matrix	brain
29	chr22:32113000-32121200	Weak transcription	Aorta	Aorta
30	chr22:32113000-32123800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:32113200-32118600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:32113200-32118600	Weak transcription	Brain Substantia Nigra	brain
33	chr22:32113200-32118800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr22:32113200-32118800	Weak transcription	Brain Angular Gyrus	brain
35	chr22:32113200-32118800	Weak transcription	A549	lung
36	chr22:32113200-32119000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr22:32113200-32119000	Weak transcription	Colon Smooth Muscle	Colon
38	chr22:32113200-32119200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr22:32113200-32119600	Weak transcription	K562	blood
40	chr22:32113200-32120200	Weak transcription	Ovary	ovary
41	chr22:32113200-32122800	Weak transcription	Psoas Muscle	Psoas
42	chr22:32113200-32132600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:32113400-32118800	Weak transcription	Brain Anterior Caudate	brain
44	chr22:32113400-32118800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr22:32113400-32119000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr22:32113400-32119000	Weak transcription	NHEK	skin
47	chr22:32113400-32119600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr22:32113400-32121000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr22:32113400-32123000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:32113400-32130400	Weak transcription	NH-A	brain

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