Variant report

Variant	rs7224067
Chromosome Location	chr17:37661518-37661519
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	chr17:37658571..37662393-chr17:37663066..37667120,4	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10775391	0.83[ASN][1000 genomes]
rs1077715	0.83[ASN][1000 genomes]
rs10852933	0.81[AFR][1000 genomes]
rs11078905	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11078906	0.85[ASN][1000 genomes]
rs11078907	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11078910	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11078911	0.83[ASN][1000 genomes]
rs11078912	0.83[ASN][1000 genomes]
rs11078913	0.83[ASN][1000 genomes]
rs11658678	0.83[ASN][1000 genomes]
rs12450559	0.82[AFR][1000 genomes]
rs12936996	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12947281	0.81[ASN][1000 genomes]
rs12952384	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2018026	0.85[ASN][1000 genomes]
rs3889368	0.83[ASN][1000 genomes]
rs4794813	0.83[ASN][1000 genomes]
rs4794814	0.81[AFR][1000 genomes]
rs4795376	0.83[ASN][1000 genomes]
rs4795377	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4795381	0.81[AFR][1000 genomes]
rs55660616	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62077464	0.84[ASN][1000 genomes]
rs6503518	0.85[ASN][1000 genomes]
rs7225096	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7405770	0.81[ASN][1000 genomes]
rs7406928	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7503069	0.81[AFR][1000 genomes]
rs7503514	0.83[ASN][1000 genomes]
rs7503705	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs8065963	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs8067884	0.92[AFR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
9	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7224067	PGAP3	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37624000-37680400	Weak transcription	Fetal Brain Male	brain
2	chr17:37624000-37690600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:37626600-37690600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:37627000-37661600	Strong transcription	Fetal Intestine Small	intestine
5	chr17:37628400-37682200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:37634200-37688600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr17:37635200-37680600	Weak transcription	Fetal Heart	heart
8	chr17:37636200-37685800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:37640400-37691000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr17:37642000-37689600	Strong transcription	Fetal Thymus	thymus
11	chr17:37642600-37680400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:37643200-37688600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr17:37643400-37689000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr17:37643800-37668800	Strong transcription	Fetal Stomach	stomach
15	chr17:37644000-37685200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:37644400-37688200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:37645000-37663200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:37645000-37663400	Strong transcription	Thymus	Thymus
19	chr17:37645000-37669200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:37645000-37689000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:37645000-37689600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr17:37645400-37685600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr17:37645600-37689200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr17:37646000-37684800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:37646000-37688400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr17:37646400-37662400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:37646400-37664400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr17:37646400-37668800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr17:37646400-37688200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:37646400-37688600	Strong transcription	Fetal Intestine Large	intestine
31	chr17:37646400-37689800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr17:37646600-37668600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:37646600-37687200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:37646600-37688200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr17:37646600-37688800	Strong transcription	Liver	Liver
36	chr17:37646600-37689600	Strong transcription	Dnd41	blood
37	chr17:37646600-37690200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:37646800-37662400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:37646800-37663000	Strong transcription	Fetal Muscle Leg	muscle
40	chr17:37646800-37663800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:37646800-37666400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:37646800-37682200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:37646800-37683800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr17:37646800-37685600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:37646800-37686200	Strong transcription	Adipose Nuclei	Adipose
46	chr17:37646800-37688200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr17:37646800-37688600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr17:37646800-37688600	Strong transcription	Placenta	Placenta
49	chr17:37646800-37689000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:37646800-37689000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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