Variant report

Variant	rs1838911
Chromosome Location	chr4:129991636-129991637
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10028974	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11098994	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs172168	0.92[ASN][1000 genomes]
rs1756011	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1757926	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1757929	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1757937	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1757938	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1757942	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs189236	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2118045	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2592948	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2597837	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2655311	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2777822	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2777823	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs280594	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs280596	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs280597	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs280601	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3099902	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3099903	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3113487	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3113488	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs337279	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55865936	0.85[ASN][1000 genomes]
rs62316971	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62316978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7654405	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs796886	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3331261	chr4:129990655-129991653	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1838911	C4orf33	cis	Artery Tibial	GTEx
rs1838911	C4orf33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129977200-130000600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:129983000-129994000	Weak transcription	Fetal Kidney	kidney
3	chr4:129983000-130001600	Weak transcription	Fetal Heart	heart
4	chr4:129985000-129991800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:129985000-130000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:129985000-130000000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:129985000-130000000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:129985000-130000200	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:129985200-129992800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:129985200-129993800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:129985200-129993800	Weak transcription	Fetal Thymus	thymus
12	chr4:129985200-129993800	Weak transcription	Thymus	Thymus
13	chr4:129985200-129994000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:129985200-129994000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:129985200-129994000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:129985200-129994000	Weak transcription	Left Ventricle	heart
17	chr4:129985200-129994000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:129985200-129994000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:129985200-129994200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:129985200-129994200	Weak transcription	Esophagus	oesophagus
21	chr4:129985200-129994200	Weak transcription	K562	blood
22	chr4:129985200-129997200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:129985200-129999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:129985200-130000000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:129985200-130000000	Weak transcription	Fetal Stomach	stomach
26	chr4:129985200-130000200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:129985200-130000600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:129985200-130000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:129985200-130000600	Weak transcription	Adipose Nuclei	Adipose
30	chr4:129985200-130000600	Weak transcription	Placenta	Placenta
31	chr4:129985200-130000600	Weak transcription	Gastric	stomach
32	chr4:129985200-130000600	Weak transcription	Lung	lung
33	chr4:129985200-130000600	Weak transcription	Ovary	ovary
34	chr4:129985200-130000600	Weak transcription	Spleen	Spleen
35	chr4:129985200-130001000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:129985200-130001200	Weak transcription	Small Intestine	intestine
37	chr4:129985200-130002200	Weak transcription	Pancreas	Pancrea
38	chr4:129985200-130012200	Weak transcription	HSMM	muscle
39	chr4:129985200-130013000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:129985200-130013200	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:129985400-129993200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:129985600-129993200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:129986600-130000800	Weak transcription	Osteobl	bone
44	chr4:129986600-130001000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:129987000-130011600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:129987200-129994000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:129987400-130000600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:129987600-130000600	Weak transcription	NHLF	lung
49	chr4:129989200-129994000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:129989200-129994000	Weak transcription	Aorta	Aorta

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