Variant report

Variant	rs7333370
Chromosome Location	chr13:96592506-96592507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs1015068	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11070154	0.84[ASN][1000 genomes]
rs11070157	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1114308	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11616658	0.87[ASN][1000 genomes]
rs11619333	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11619490	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11840966	0.84[ASN][1000 genomes]
rs11841021	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11842396	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11843772	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12585387	0.87[AMR][1000 genomes]
rs12858210	0.84[ASN][1000 genomes]
rs12860877	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12870771	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12876018	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1411557	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537030	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1537031	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17189895	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17189951	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1813179	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1854173	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1872161	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2026819	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2062276	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2129004	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2129005	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2170812	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2277419	0.86[AMR][1000 genomes]
rs2389532	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2389570	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2389571	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28649586	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34738594	0.87[ASN][1000 genomes]
rs34816227	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35423192	0.85[ASN][1000 genomes]
rs35685996	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35836619	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35898412	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36079088	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36101002	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759441	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3759442	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3782989	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3782990	0.87[AMR][1000 genomes]
rs3825424	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4547218	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4771923	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4773928	0.84[ASN][1000 genomes]
rs4773929	0.87[ASN][1000 genomes]
rs4773933	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4773934	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4773935	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55822301	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57924129	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59592654	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60677558	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61972920	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61973963	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6492824	0.86[ASN][1000 genomes]
rs6492825	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6492827	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6492828	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6492829	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67447270	0.84[ASN][1000 genomes]
rs7317285	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7320351	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7321296	0.86[ASN][1000 genomes]
rs7322566	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7323150	0.84[ASN][1000 genomes]
rs7323734	0.86[ASN][1000 genomes]
rs7323780	0.86[ASN][1000 genomes]
rs7324957	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7325690	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7325915	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7327532	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7328164	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7328703	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7331461	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7331926	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7332683	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7333843	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7334100	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7334508	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7335319	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7335514	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7335872	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7336088	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7336373	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7336483	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7337653	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7338224	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7338859	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs764714	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7982337	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7983546	0.84[ASN][1000 genomes]
rs7983589	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7983843	0.87[AMR][1000 genomes]
rs7984584	0.81[ASN][1000 genomes]
rs7986005	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990833	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7991250	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7992875	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7998353	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8000849	0.84[ASN][1000 genomes]
rs9556503	0.86[ASN][1000 genomes]
rs9556504	0.86[ASN][1000 genomes]
rs9556505	0.88[ASN][1000 genomes]
rs9556506	0.95[ASN][1000 genomes]
rs9556508	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9556509	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9556511	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9556512	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9556513	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9556515	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9556516	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9556517	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9556518	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9556520	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9556521	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9556523	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9561967	0.87[ASN][1000 genomes]
rs9561969	0.88[ASN][1000 genomes]
rs9561971	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9561973	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9561974	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9561975	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9561976	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9561981	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9561984	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9561985	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9561987	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9561988	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9561991	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9561995	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9561996	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9561998	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9562003	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9562005	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9562006	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9562007	0.85[ASN][1000 genomes]
rs9562008	0.91[ASN][1000 genomes]
rs9562012	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9562014	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9562015	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9562016	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9562017	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9562018	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9562019	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9634487	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9670470	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832691	chr13:96478098-96659823	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv900935	chr13:96497070-96631221	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7333370	DNAJC3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96577000-96623200	Weak transcription	NHLF	lung
2	chr13:96577200-96598000	Weak transcription	HMEC	breast
3	chr13:96577800-96608800	Weak transcription	NHEK	skin
4	chr13:96584000-96599200	Weak transcription	Colonic Mucosa	Colon
5	chr13:96584200-96611000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:96584600-96592800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:96585000-96592600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:96586000-96601200	Weak transcription	NHDF-Ad	bronchial
9	chr13:96586600-96601400	Weak transcription	HUVEC	blood vessel
10	chr13:96587600-96592600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:96588200-96592600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr13:96588200-96593000	Weak transcription	Fetal Brain Male	brain
13	chr13:96588400-96592600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr13:96588600-96603400	Weak transcription	NH-A	brain
15	chr13:96588800-96596400	Weak transcription	Colon Smooth Muscle	Colon
16	chr13:96588800-96605400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr13:96588800-96606400	Weak transcription	Fetal Heart	heart
18	chr13:96588800-96611200	Weak transcription	Gastric	stomach
19	chr13:96589000-96593600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:96589000-96593600	Weak transcription	HSMMtube	muscle
21	chr13:96589000-96594200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr13:96589000-96594200	Weak transcription	Brain Substantia Nigra	brain
23	chr13:96589000-96594400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:96589000-96594600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:96589000-96595200	Weak transcription	GM12878-XiMat	blood
26	chr13:96589000-96598600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:96589000-96598600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr13:96589000-96599200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:96589000-96600200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr13:96589000-96600200	Weak transcription	Esophagus	oesophagus
31	chr13:96589000-96600400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr13:96589000-96601000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:96589000-96601000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr13:96589000-96601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:96589000-96602200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:96589000-96602200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr13:96589000-96602200	Weak transcription	Brain Hippocampus Middle	brain
38	chr13:96589000-96602600	Weak transcription	Brain Anterior Caudate	brain
39	chr13:96589000-96603000	Weak transcription	Fetal Kidney	kidney
40	chr13:96589000-96603600	Weak transcription	Right Ventricle	heart
41	chr13:96589000-96604400	Weak transcription	Placenta	Placenta
42	chr13:96589000-96605800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr13:96589000-96609600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:96589000-96609600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr13:96589000-96611000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:96589000-96611000	Weak transcription	Pancreas	Pancrea
47	chr13:96589000-96611800	Weak transcription	A549	lung
48	chr13:96589000-96611800	Weak transcription	HepG2	liver
49	chr13:96589000-96612000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr13:96589000-96615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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