Variant report

Variant	rs59150074
Chromosome Location	chr4:2884049-2884050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2818530..2821169-chr4:2881997..2885134,3	K562	blood:
2	chr4:2883697..2886623-chr4:2900900..2904831,4	MCF-7	breast:
3	chr4:2876464..2878755-chr4:2882679..2884281,2	K562	blood:

Variant related genes	Relation type
ENSG00000087274	Chromatin interaction
ENSG00000087266	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10026792	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1014947	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1014948	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12623	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1263412	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12641947	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643323	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12647647	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12647713	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12649553	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16843589	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16843603	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17833172	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17833250	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17833981	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17834203	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1877723	0.87[ASN][1000 genomes]
rs2032470	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2096760	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3021131	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35780153	0.95[ASN][1000 genomes]
rs55754437	0.81[EUR][1000 genomes]
rs55927173	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58115360	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs624833	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6600769	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6819310	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6824567	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7436306	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7655104	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7678161	0.83[ASN][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	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs59150074	GRK4	cis	Skin Sun Exposed Lower leg	GTEx
rs59150074	GRK4	cis	Artery Aorta	GTEx
rs59150074	GRK4	Cis_1M	lymphoblastoid	RTeQTL
rs59150074	GRK4	cis	Thyroid	GTEx
rs59150074	GRK4	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2870200-2914000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:2870600-2886000	Weak transcription	Fetal Brain Male	brain
3	chr4:2871000-2885800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:2871200-2886000	Weak transcription	Aorta	Aorta
5	chr4:2871200-2896000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:2871200-2900600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:2872200-2890800	Weak transcription	A549	lung
8	chr4:2874000-2887000	Weak transcription	Fetal Heart	heart
9	chr4:2874200-2900000	Weak transcription	Hela-S3	cervix
10	chr4:2875400-2886000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:2875800-2884200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:2876000-2885800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:2876000-2886000	Weak transcription	Colonic Mucosa	Colon
14	chr4:2876000-2886600	Weak transcription	Stomach Mucosa	stomach
15	chr4:2876400-2891600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:2876600-2889600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:2876600-2919200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr4:2876800-2889000	Strong transcription	GM12878-XiMat	blood
19	chr4:2876800-2889400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr4:2876800-2891800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:2877000-2886000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:2877000-2889800	Strong transcription	Dnd41	blood
23	chr4:2877200-2886200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:2877200-2891800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:2877200-2919400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:2877400-2886200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:2877400-2889600	Strong transcription	Liver	Liver
28	chr4:2877400-2889600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr4:2877400-2890000	Strong transcription	Fetal Thymus	thymus
30	chr4:2877400-2890200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr4:2877400-2891800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr4:2877600-2889600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:2877600-2891400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:2877600-2891600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr4:2877800-2887000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:2877800-2890800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:2877800-2891600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:2878000-2886200	Weak transcription	NHEK	skin
39	chr4:2878000-2891200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:2879000-2884200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr4:2879000-2889800	Strong transcription	Primary B cells from cord blood	blood
42	chr4:2879400-2886000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:2879400-2886000	Weak transcription	HMEC	breast
44	chr4:2880000-2886000	Weak transcription	Brain Substantia Nigra	brain
45	chr4:2880000-2887000	Weak transcription	Psoas Muscle	Psoas
46	chr4:2880200-2887800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:2880200-2889600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr4:2880400-2886000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr4:2880600-2889600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:2880600-2915000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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