Variant report

Variant	rs9833388
Chromosome Location	chr3:49320183-49320184
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6803264	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008750	chr3:49208815-49362401	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv963481	chr3:49304260-49325571	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs9833388	AMT	Cis_1M	lymphoblastoid	RTeQTL
rs9833388	AMT	cis	Esophagus Mucosa	GTEx
rs9833388	AMT	cis	Artery Tibial	GTEx
rs9833388	NICN1-AS1	cis	Thyroid	GTEx
rs9833388	AMT	cis	Artery Aorta	GTEx
rs9833388	QRICH1	cis	Nerve Tibial	GTEx
rs9833388	WDR6	cis	Muscle Skeletal	GTEx
rs9833388	AMT	cis	Thyroid	GTEx
rs9833388	RP13-131K19.6	cis	Esophagus Muscularis	GTEx
rs9833388	AMT	cis	Whole Blood	GTEx
rs9833388	NICN1	cis	Thyroid	GTEx
rs9833388	AMT	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49312600-49375800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:49313200-49326200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:49313200-49349400	Strong transcription	Dnd41	blood
4	chr3:49313600-49349200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:49314200-49324200	Strong transcription	Hela-S3	cervix
6	chr3:49314800-49320800	Weak transcription	Fetal Brain Male	brain
7	chr3:49314800-49321000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:49314800-49321000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:49314800-49334600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:49314800-49355400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:49314800-49364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:49315000-49320800	Weak transcription	Aorta	Aorta
13	chr3:49315000-49320800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:49315000-49321000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:49315200-49320800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:49315200-49320800	Weak transcription	Psoas Muscle	Psoas
17	chr3:49315200-49321000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:49315200-49327600	Strong transcription	Placenta	Placenta
19	chr3:49315200-49349600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:49315200-49349600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:49315200-49352600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:49315200-49373600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:49315200-49375000	Strong transcription	Fetal Stomach	stomach
24	chr3:49315400-49320800	Weak transcription	Fetal Heart	heart
25	chr3:49315400-49320800	Weak transcription	Small Intestine	intestine
26	chr3:49315400-49321000	Weak transcription	Stomach Mucosa	stomach
27	chr3:49315400-49321000	Weak transcription	A549	lung
28	chr3:49315400-49327600	Strong transcription	GM12878-XiMat	blood
29	chr3:49315400-49335800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:49315400-49370400	Strong transcription	Fetal Thymus	thymus
31	chr3:49315600-49332400	Strong transcription	Brain Hippocampus Middle	brain
32	chr3:49315800-49333000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr3:49315800-49349200	Strong transcription	Fetal Brain Female	brain
34	chr3:49316200-49334600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr3:49316200-49370200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr3:49316400-49328600	Strong transcription	Fetal Lung	lung
37	chr3:49316600-49340200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:49316800-49320800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:49317000-49324200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:49317200-49320800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:49317200-49334200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:49317200-49349400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr3:49317200-49371800	Strong transcription	Fetal Intestine Small	intestine
44	chr3:49317400-49320800	Weak transcription	HUVEC	blood vessel
45	chr3:49317400-49331200	Strong transcription	Adipose Nuclei	Adipose
46	chr3:49317400-49332200	Strong transcription	Right Ventricle	heart
47	chr3:49317400-49334200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:49317400-49334200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr3:49317400-49334200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:49317400-49334200	Strong transcription	Fetal Muscle Leg	muscle

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