Variant report

Variant	rs7611358
Chromosome Location	chr3:48927856-48927857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 14 )

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

rs_ID	r²[population]
rs7621226	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	esv3487342	chr3:48823957-48960475	Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3487343	chr3:48823963-48960381	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs7611358	NICN1	cis	Thyroid	GTEx
rs7611358	P4HTM	cis	lung	GTEx
rs7611358	AMT	cis	Adipose Subcutaneous	GTEx
rs7611358	AMT	cis	lung	GTEx
rs7611358	NICN1-AS1	cis	Thyroid	GTEx
rs7611358	AMT	cis	Whole Blood	GTEx
rs7611358	AMT	cis	Artery Aorta	GTEx
rs7611358	AMT	cis	Nerve Tibial	GTEx
rs7611358	ARIH2	Cis_1M	lymphoblastoid	RTeQTL
rs7611358	WDR6	cis	Muscle Skeletal	GTEx
rs7611358	AMT	cis	Artery Tibial	GTEx
rs7611358	WDR6	cis	Nerve Tibial	GTEx
rs7611358	PH-4	Cis_1M	lymphoblastoid	RTeQTL
rs7611358	AMT	cis	Thyroid	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48889600-48935400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:48896400-48934400	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:48896800-48934200	Weak transcription	Stomach Mucosa	stomach
4	chr3:48896800-48935000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:48897000-48928600	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:48897000-48933600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:48897000-48934200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:48897000-48934200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:48897200-48934200	Weak transcription	Colonic Mucosa	Colon
10	chr3:48897200-48935000	Weak transcription	NH-A	brain
11	chr3:48897200-48935200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:48897400-48934600	Weak transcription	Brain Anterior Caudate	brain
13	chr3:48900200-48932000	Weak transcription	Dnd41	blood
14	chr3:48900200-48932800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:48900200-48935000	Weak transcription	Esophagus	oesophagus
16	chr3:48902600-48935000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:48904000-48931200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr3:48914600-48933600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:48915400-48928800	Weak transcription	HSMM	muscle
20	chr3:48916600-48935000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:48917000-48934800	Weak transcription	NHDF-Ad	bronchial
22	chr3:48917600-48934200	Weak transcription	Osteobl	bone
23	chr3:48917600-48934800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:48917800-48928400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:48917800-48934200	Weak transcription	GM12878-XiMat	blood
26	chr3:48918200-48929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:48919400-48935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:48919600-48928800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr3:48919600-48929000	Weak transcription	Right Ventricle	heart
30	chr3:48919600-48934400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:48919800-48928800	Weak transcription	Pancreas	Pancrea
32	chr3:48920000-48933600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr3:48920000-48934200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:48920400-48934200	Weak transcription	Fetal Heart	heart
35	chr3:48921600-48928800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:48921600-48935000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:48922600-48928400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr3:48922600-48928600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:48922600-48934400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr3:48922600-48935000	Weak transcription	Brain Angular Gyrus	brain
41	chr3:48923000-48928400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:48923000-48935000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr3:48923200-48928400	Weak transcription	Gastric	stomach
44	chr3:48923400-48929000	Weak transcription	Primary B cells from cord blood	blood
45	chr3:48923400-48934200	Weak transcription	Small Intestine	intestine
46	chr3:48923600-48928800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:48923600-48928800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr3:48923600-48935000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:48924400-48928000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:48924800-48928400	Weak transcription	Primary T cells from cord blood	blood

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