Variant report

Variant	rs55927173
Chromosome Location	chr4:2891195-2891196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2884994..2887786-chr4:2890994..2893239,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10026792	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1014947	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1014948	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12623	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1263412	0.95[ASN][1000 genomes]
rs12641947	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643323	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12647647	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12647713	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12649553	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16843589	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16843603	0.83[ASN][1000 genomes]
rs17833172	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17833250	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17833981	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17834203	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1877723	0.87[ASN][1000 genomes]
rs2032470	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2096760	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3021131	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35780153	0.95[ASN][1000 genomes]
rs58115360	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59150074	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624833	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6600769	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6819310	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6824567	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7436306	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7655104	0.87[AMR][1000 genomes];0.81[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs55927173	GRK4	cis	Skin Sun Exposed Lower leg	GTEx
rs55927173	GRK4	Cis_1M	lymphoblastoid	RTeQTL
rs55927173	GRK4	cis	Artery Tibial	GTEx
rs55927173	GRK4	cis	Thyroid	GTEx

Chromatin state (count:126 , 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	chr4:2871200-2896000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:2871200-2900600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:2874200-2900000	Weak transcription	Hela-S3	cervix
5	chr4:2876400-2891600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:2876600-2919200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr4:2876800-2891800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:2877200-2891800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:2877200-2919400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:2877400-2891800	Strong transcription	Duodenum Mucosa	Duodenum
11	chr4:2877600-2891400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:2877600-2891600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr4:2877800-2891600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:2878000-2891200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:2880600-2915000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:2881000-2895600	Weak transcription	Right Atrium	heart
17	chr4:2882200-2891400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:2883000-2892400	Strong transcription	Fetal Intestine Small	intestine
19	chr4:2883200-2891600	Strong transcription	Fetal Lung	lung
20	chr4:2883200-2891800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:2883400-2891400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:2883400-2891800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:2883600-2891400	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:2883600-2891600	Strong transcription	Primary T cells from cord blood	blood
25	chr4:2883600-2891800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr4:2883600-2891800	Strong transcription	Lung	lung
27	chr4:2883600-2918600	Strong transcription	Fetal Stomach	stomach
28	chr4:2887800-2892400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:2888200-2892600	Weak transcription	Brain Substantia Nigra	brain
30	chr4:2888200-2893000	Weak transcription	NHDF-Ad	bronchial
31	chr4:2888200-2899200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:2888400-2895800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:2888600-2892800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:2888600-2893200	Weak transcription	Fetal Brain Female	brain
35	chr4:2888600-2895200	Weak transcription	Colonic Mucosa	Colon
36	chr4:2888600-2895200	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:2888600-2895400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:2888600-2895400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:2888600-2895400	Weak transcription	HMEC	breast
40	chr4:2888600-2896200	Weak transcription	Ovary	ovary
41	chr4:2888600-2896200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:2888600-2896400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:2888600-2896400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:2888600-2896600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:2888600-2896600	Weak transcription	Small Intestine	intestine
46	chr4:2888600-2897200	Weak transcription	NHEK	skin
47	chr4:2888600-2899600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr4:2888600-2899800	Weak transcription	Fetal Brain Male	brain
49	chr4:2888800-2893000	Weak transcription	Brain Angular Gyrus	brain
50	chr4:2888800-2893000	Weak transcription	Brain Cingulate Gyrus	brain

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