Variant report

Variant	rs8002064
Chromosome Location	chr13:96490773-96490774
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	chr13:96488916..96491538-chr13:96492775..96495359,2	K562	blood:
2	chr13:96484418..96486030-chr13:96489191..96491096,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11070154	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11616456	0.90[EUR][1000 genomes]
rs11616658	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11839843	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11840966	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11842396	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12858210	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12876018	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1537030	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1537031	0.83[EUR][1000 genomes]
rs17189895	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2389532	0.82[EUR][1000 genomes]
rs34738594	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35423192	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35836619	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36079088	0.81[EUR][1000 genomes]
rs4773928	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4773929	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57924129	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59592654	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60677558	0.81[EUR][1000 genomes]
rs61972920	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6492824	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6492825	0.83[EUR][1000 genomes]
rs67447270	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7321296	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7322566	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7323150	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7323734	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7323780	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7325690	0.83[EUR][1000 genomes]
rs7328703	0.84[EUR][1000 genomes]
rs7331926	0.83[EUR][1000 genomes]
rs7335514	0.83[EUR][1000 genomes]
rs7336373	0.81[EUR][1000 genomes]
rs7337653	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7338859	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7981923	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7982337	0.82[EUR][1000 genomes]
rs7983546	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7984584	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7986005	0.80[EUR][1000 genomes]
rs8000849	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8001999	0.81[AFR][1000 genomes]
rs9556502	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9556503	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9556504	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9556505	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9556508	0.83[EUR][1000 genomes]
rs9556509	0.80[EUR][1000 genomes]
rs9556512	0.80[EUR][1000 genomes]
rs9556513	0.82[EUR][1000 genomes]
rs9556515	0.81[EUR][1000 genomes]
rs9561963	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9561964	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9561967	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9561969	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9561971	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9561973	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9561974	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9561975	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9561976	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9561981	0.82[EUR][1000 genomes]
rs9561984	0.83[EUR][1000 genomes]
rs9561985	0.83[EUR][1000 genomes]
rs9561987	0.81[EUR][1000 genomes]
rs9561988	0.84[EUR][1000 genomes]
rs9561991	0.83[EUR][1000 genomes]
rs9561995	0.82[EUR][1000 genomes]
rs9670089	0.88[AMR][1000 genomes];0.88[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	nsv832690	chr13:96330757-96508077	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3509289	chr13:96461000-96505090	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3509290	chr13:96461000-96505090	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	nsv527566	chr13:96485609-96497070	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8002064	DNAJC3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96467400-96490800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr13:96476000-96502600	Weak transcription	Fetal Heart	heart
3	chr13:96478000-96498200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:96478000-96502600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:96478000-96502600	Weak transcription	Left Ventricle	heart
6	chr13:96478000-96568400	Weak transcription	Placenta	Placenta
7	chr13:96478200-96493600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:96478200-96495000	Weak transcription	Lung	lung
9	chr13:96478200-96502200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr13:96478200-96502600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:96478200-96502600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:96478200-96502600	Weak transcription	Aorta	Aorta
13	chr13:96478200-96502600	Weak transcription	Fetal Stomach	stomach
14	chr13:96478200-96502600	Weak transcription	Gastric	stomach
15	chr13:96478200-96502600	Weak transcription	Ovary	ovary
16	chr13:96478600-96491400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:96486400-96490800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:96486400-96502400	Weak transcription	Osteobl	bone
19	chr13:96486400-96502600	Weak transcription	Hela-S3	cervix
20	chr13:96486400-96502600	Weak transcription	NHLF	lung
21	chr13:96486400-96503000	Weak transcription	NHDF-Ad	bronchial
22	chr13:96486600-96491000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:96486600-96491400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:96486600-96491800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:96486600-96502200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:96486600-96502200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr13:96486600-96502400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:96486600-96502400	Weak transcription	HMEC	breast
29	chr13:96486600-96502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:96486600-96502600	Weak transcription	NH-A	brain
31	chr13:96486800-96493400	Weak transcription	HSMM	muscle
32	chr13:96487000-96510000	Weak transcription	HUVEC	blood vessel
33	chr13:96490400-96502200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:96490600-96490800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr13:96490600-96491000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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