Variant report

Variant	rs3021131
Chromosome Location	chr4:2918975-2918976
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1014947	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014948	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12643323	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647647	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647713	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649553	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16843589	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16843603	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17833981	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17834203	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032470	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55754437	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55927173	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59150074	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs624833	0.83[ASN][1000 genomes]
rs6600769	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6819310	0.82[EUR][1000 genomes]
rs6824567	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7436306	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678161	0.84[EUR][1000 genomes];0.91[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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3021131	GRK4	cis	Artery Tibial	GTEx
rs3021131	GRK4	Cis_1M	lymphoblastoid	RTeQTL
rs3021131	GRK4	cis	Thyroid	GTEx
rs3021131	GRK4	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2876600-2919200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr4:2877200-2919400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:2893000-2919400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:2893200-2919200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:2893200-2932600	Strong transcription	Fetal Thymus	thymus
6	chr4:2893400-2919000	Strong transcription	Fetal Muscle Leg	muscle
7	chr4:2893800-2919000	Strong transcription	Duodenum Mucosa	Duodenum
8	chr4:2894000-2923000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:2894800-2919800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:2895200-2919000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr4:2895400-2919000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:2895600-2919200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:2895600-2919200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:2895800-2919000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:2895800-2919200	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:2895800-2919200	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:2899800-2919600	Strong transcription	Brain Germinal Matrix	brain
18	chr4:2901200-2934600	Weak transcription	Hela-S3	cervix
19	chr4:2903000-2925400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:2903200-2919200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:2903200-2919200	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr4:2904000-2919000	Strong transcription	Rectal Smooth Muscle	rectum
23	chr4:2904600-2919200	Strong transcription	Fetal Brain Female	brain
24	chr4:2904800-2919600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:2905000-2919000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:2905000-2919200	Strong transcription	Brain Cingulate Gyrus	brain
27	chr4:2905000-2919200	Strong transcription	Osteobl	bone
28	chr4:2906400-2919200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:2907400-2935400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:2909200-2922400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:2909400-2919200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:2909400-2923400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:2909600-2919200	Strong transcription	Primary T cells from cord blood	blood
34	chr4:2910400-2919400	Strong transcription	Fetal Lung	lung
35	chr4:2910600-2927800	Weak transcription	Small Intestine	intestine
36	chr4:2911200-2924000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:2911200-2935000	Weak transcription	Psoas Muscle	Psoas
38	chr4:2912000-2919200	Strong transcription	Liver	Liver
39	chr4:2912200-2919000	Strong transcription	Brain Hippocampus Middle	brain
40	chr4:2912400-2919000	Strong transcription	Brain Anterior Caudate	brain
41	chr4:2912600-2934800	Weak transcription	A549	lung
42	chr4:2913000-2923800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:2913000-2935000	Weak transcription	K562	blood
44	chr4:2913800-2924000	Weak transcription	Stomach Mucosa	stomach
45	chr4:2914000-2925800	Weak transcription	NHDF-Ad	bronchial
46	chr4:2914200-2925200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:2914800-2919200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:2915400-2919000	Strong transcription	Right Ventricle	heart
49	chr4:2915600-2923400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:2915600-2924800	Weak transcription	Brain Substantia Nigra	brain

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