Variant report

Variant	rs2032463
Chromosome Location	chr4:2941988-2941989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2907975..2910281-chr4:2941881..2943677,2	MCF-7	breast:
2	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
3	chr4:2941284..2943346-chr4:2963790..2966270,3	MCF-7	breast:
4	chr4:2940357..2942863-chr4:2954214..2956464,2	K562	blood:
5	chr11:62609089..62610637-chr4:2941968..2944079,2	MCF-7	breast:
6	chr4:2798770..2801758-chr4:2941180..2943976,2	K562	blood:
7	chr4:2906552..2911481-chr4:2934891..2942965,11	MCF-7	breast:
8	chr4:2844829..2846512-chr4:2941018..2943974,2	K562	blood:

Variant related genes	Relation type
ENSG00000087266	Chromatin interaction
ENSG00000125388	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000087269	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs1018789	0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1024323	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs1054090	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1063745	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12502773	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1419044	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1475975	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1475976	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1475977	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1891710	0.85[CHB][hapmap]
rs1967959	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2022485	0.82[CEU][hapmap]
rs2185886	0.96[CEU][hapmap];0.85[CHB][hapmap];0.82[YRI][hapmap]
rs2256086	0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2342295	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs2471327	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs2471350	0.85[CHB][hapmap]
rs2488806	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs2488809	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2488815	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs2515932	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs2515933	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs2515935	0.81[CEU][hapmap]
rs2515943	0.85[CHB][hapmap]
rs2515960	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2515961	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2960296	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2960308	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs3021145	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3021147	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57191180	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][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	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
5	esv3375632	chr4:2941604-2944102	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2032463	GRK4	cis	lung	GTEx
rs2032463	GRK4	cis	Skin Sun Exposed Lower leg	GTEx
rs2032463	GRK4	cis	Thyroid	GTEx
rs2032463	GRK4	Cis_1M	lymphoblastoid	RTeQTL
rs2032463	GRK4	cis	Whole Blood	GTEx
rs2032463	GRK4	cis	Artery Tibial	GTEx
rs2032463	GRK4	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2937800-2942400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:2937800-2945800	Weak transcription	Fetal Kidney	kidney
3	chr4:2938000-2945400	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr4:2938000-2960400	Weak transcription	Right Atrium	heart
5	chr4:2938200-2946800	Strong transcription	Thymus	Thymus
6	chr4:2938200-2948400	Strong transcription	Fetal Intestine Small	intestine
7	chr4:2938200-2962200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:2938400-2944400	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:2938400-2957600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:2938400-2959600	Strong transcription	Brain Anterior Caudate	brain
11	chr4:2938400-2962200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:2938600-2943800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr4:2938600-2949600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:2938600-2960400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:2938600-2960400	Strong transcription	Brain Cingulate Gyrus	brain
16	chr4:2938600-2961000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:2938600-2961600	Strong transcription	Primary T cells from cord blood	blood
18	chr4:2938600-2961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:2938800-2944000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr4:2938800-2955600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:2938800-2956800	Strong transcription	Fetal Intestine Large	intestine
22	chr4:2938800-2959200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:2938800-2961000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr4:2938800-2961000	Strong transcription	Primary hematopoietic stem cells	blood
25	chr4:2938800-2961000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:2939000-2943000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:2939000-2956800	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr4:2939000-2956800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:2939000-2957400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:2939000-2958400	Strong transcription	Brain Substantia Nigra	brain
31	chr4:2939000-2960200	Strong transcription	Lung	lung
32	chr4:2939000-2961600	Strong transcription	Fetal Stomach	stomach
33	chr4:2939200-2953800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:2939200-2956200	Strong transcription	Left Ventricle	heart
35	chr4:2939200-2959200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:2939200-2959600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:2939200-2960000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr4:2939200-2960600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:2939200-2961000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr4:2939200-2963200	Weak transcription	Fetal Heart	heart
41	chr4:2939400-2942600	Strong transcription	Esophagus	oesophagus
42	chr4:2939400-2944200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr4:2939400-2945800	Strong transcription	HSMMtube	muscle
44	chr4:2939400-2948000	Strong transcription	Liver	Liver
45	chr4:2939400-2952600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:2939400-2956800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:2939400-2957200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:2939400-2959000	Strong transcription	Ovary	ovary
49	chr4:2939400-2959400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:2939400-2959600	Strong transcription	Adipose Nuclei	Adipose

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