Variant report

Variant	rs10445307
Chromosome Location	chr17:37623466-37623467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37616532..37619148-chr17:37622175..37626239,3	MCF-7	breast:
2	chr17:37621427..37623786-chr17:37626358..37629657,3	MCF-7	breast:
3	chr17:37618970..37621039-chr17:37622079..37624596,3	MCF-7	breast:
4	chr17:37623004..37624615-chr17:37639005..37640684,2	K562	blood:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10445305	0.83[AMR][1000 genomes]
rs10445306	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10491128	0.85[ASN][1000 genomes]
rs11078898	0.82[ASN][1000 genomes]
rs11078900	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11078901	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11078902	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078903	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078904	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11078905	0.82[ASN][1000 genomes]
rs11078906	0.81[ASN][1000 genomes]
rs11078907	0.81[ASN][1000 genomes]
rs11650081	0.84[ASN][1000 genomes]
rs11650146	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11651089	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11657899	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11659010	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11867312	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11868029	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11868030	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11868133	0.85[ASN][1000 genomes]
rs11869109	0.83[ASN][1000 genomes]
rs11869259	0.80[ASN][1000 genomes]
rs11869323	0.82[ASN][1000 genomes]
rs11870631	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12150047	0.80[ASN][1000 genomes]
rs12150493	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12452509	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12452682	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12452880	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12600625	0.83[ASN][1000 genomes]
rs12600751	0.85[ASN][1000 genomes]
rs12936646	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12937703	0.89[ASN][1000 genomes]
rs12938099	0.80[ASN][1000 genomes]
rs12938268	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12939831	0.84[ASN][1000 genomes]
rs12942352	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12942360	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12943928	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12947281	0.85[ASN][1000 genomes]
rs12947620	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12948560	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12948906	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12950666	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13341996	0.82[ASN][1000 genomes]
rs2018026	0.81[ASN][1000 genomes]
rs2338797	0.85[ASN][1000 genomes]
rs2338798	0.83[ASN][1000 genomes]
rs34363096	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34432983	0.85[ASN][1000 genomes]
rs34597616	0.84[ASN][1000 genomes]
rs34957982	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35112839	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35285898	0.85[ASN][1000 genomes]
rs35497503	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35546703	0.81[ASN][1000 genomes]
rs35667594	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36064019	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4286140	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4390625	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4410117	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4462633	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4511574	0.82[ASN][1000 genomes]
rs4794807	0.82[ASN][1000 genomes]
rs4794809	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4794810	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4795356	0.81[ASN][1000 genomes]
rs4795357	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4795359	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4795361	0.81[ASN][1000 genomes]
rs4795362	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4795364	0.87[ASN][1000 genomes]
rs4795367	0.80[ASN][1000 genomes]
rs4795369	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4795371	0.88[ASN][1000 genomes]
rs55722796	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57399933	0.83[ASN][1000 genomes]
rs57448077	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61161659	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62075056	0.83[ASN][1000 genomes]
rs62077463	0.81[ASN][1000 genomes]
rs62077464	0.80[ASN][1000 genomes]
rs6503503	0.80[ASN][1000 genomes]
rs6503506	0.82[ASN][1000 genomes]
rs6503507	0.82[ASN][1000 genomes]
rs6503513	0.86[ASN][1000 genomes]
rs6503515	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6503517	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6503518	0.81[ASN][1000 genomes]
rs68178216	0.82[ASN][1000 genomes]
rs7208274	0.80[ASN][1000 genomes]
rs7208714	0.83[ASN][1000 genomes]
rs7210488	0.83[ASN][1000 genomes]
rs7218074	0.83[ASN][1000 genomes]
rs7219014	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7219294	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7221875	0.83[ASN][1000 genomes]
rs7223438	0.82[ASN][1000 genomes]
rs7223896	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7225096	0.81[ASN][1000 genomes]
rs73293051	0.80[ASN][1000 genomes]
rs7405667	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7501488	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8065879	0.82[ASN][1000 genomes]
rs8072351	0.88[ASN][1000 genomes]
rs8074855	0.80[ASN][1000 genomes]
rs8076494	0.82[ASN][1000 genomes]
rs8076546	0.85[ASN][1000 genomes]
rs8077104	0.82[ASN][1000 genomes]
rs8079303	0.82[ASN][1000 genomes]
rs8081780	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9646419	0.80[ASN][1000 genomes]
rs9892675	0.85[ASN][1000 genomes]
rs9894500	0.82[ASN][1000 genomes]
rs9896913	0.82[ASN][1000 genomes]
rs9898170	0.80[ASN][1000 genomes]
rs9898773	0.82[ASN][1000 genomes]
rs9901219	0.86[ASN][1000 genomes]
rs9904919	0.86[ASN][1000 genomes]
rs9905432	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10445307	PGAP3	cis	Thyroid	GTEx
rs10445307	PGAP3	cis	Heart Left Ventricle	GTEx
rs10445307	CRKRS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37619600-37627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:37619800-37627200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:37619800-37649200	Weak transcription	Esophagus	oesophagus
4	chr17:37620200-37627200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:37620400-37627400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:37620400-37650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:37620600-37623600	Weak transcription	Fetal Heart	heart
8	chr17:37620600-37625400	Weak transcription	NHDF-Ad	bronchial
9	chr17:37620800-37625200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:37620800-37626800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr17:37620800-37627200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:37621000-37623600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:37621000-37623600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:37621000-37623600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr17:37621000-37623600	Weak transcription	Fetal Kidney	kidney
16	chr17:37621000-37626600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr17:37621000-37626800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr17:37621000-37627000	Weak transcription	HSMMtube	muscle
19	chr17:37621000-37627200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr17:37621000-37627200	Weak transcription	Right Ventricle	heart
21	chr17:37621000-37627600	Weak transcription	Colonic Mucosa	Colon
22	chr17:37621200-37623800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:37621200-37624000	Weak transcription	Osteobl	bone
24	chr17:37621200-37624400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr17:37621200-37625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:37621200-37626800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr17:37621200-37626800	Weak transcription	Colon Smooth Muscle	Colon
28	chr17:37621200-37626800	Weak transcription	HMEC	breast
29	chr17:37621200-37627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr17:37621200-37627000	Weak transcription	Brain Substantia Nigra	brain
31	chr17:37621200-37627200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:37621200-37627200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr17:37621200-37627200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr17:37621200-37627200	Weak transcription	Aorta	Aorta
35	chr17:37621200-37627200	Weak transcription	Gastric	stomach
36	chr17:37621200-37627200	Weak transcription	Psoas Muscle	Psoas
37	chr17:37621400-37626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:37621400-37626200	Strong transcription	Fetal Intestine Small	intestine
39	chr17:37621400-37630400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr17:37621600-37626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:37621600-37627200	Weak transcription	Thymus	Thymus
42	chr17:37621800-37624400	Weak transcription	HUVEC	blood vessel
43	chr17:37621800-37626800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr17:37621800-37626800	Weak transcription	NH-A	brain
45	chr17:37621800-37626800	Weak transcription	NHEK	skin
46	chr17:37621800-37627000	Weak transcription	NHLF	lung
47	chr17:37622000-37623600	Weak transcription	Primary B cells from cord blood	blood
48	chr17:37622000-37623600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr17:37622000-37623600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr17:37622000-37623600	Weak transcription	Placenta	Placenta

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