Variant report

Variant	rs7329512
Chromosome Location	chr13:76119702-76119703
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:76119663-76119713	H1-hESC	embryonic stem cell:	embryo
2	chr13:76119663-76119713	SK-N-SH_RA	brain:	n/a
3	chr13:76119663-76119713	NHDF-neo	bronchial:	n/a
4	chr13:76119663-76119713	AG09309	skin:	n/a
5	chr13:76119663-76119713	MCF10A-Er-Src	breast:	n/a
6	chr13:76119663-76119713	GM19239	blood:	n/a
7	chr13:76119663-76119713	A549	lung:	n/a
8	chr13:76119663-76119713	BE2_C	brain:	n/a
9	chr13:76119663-76119713	BJ	skin:	n/a
10	chr13:76119663-76119713	HRPEpiC	eye:	n/a
11	chr13:76119663-76119713	HEK293	kidney:	embryo
12	chr13:76119663-76119713	GM12878	blood:	n/a
13	chr13:76119663-76119713	Caco-2	colon:	n/a
14	chr13:76119663-76119713	HCF	heart:	n/a
15	chr13:76119663-76119713	HL-60	blood:	n/a
16	chr13:76119663-76119713	NT2-D1	testis:	n/a
17	chr13:76119663-76119713	ProgFib	skin:	n/a
18	chr13:76119663-76119713	HMEC	breast:	n/a
19	chr13:76119663-76119713	SAEC	small airway:	n/a
20	chr13:76119663-76119713	NB4	blood:	n/a
21	chr13:76119663-76119713	AG04450	lung:	fetal
22	chr13:76119663-76119713	IMR90	lung:	fetal
23	chr13:76119663-76119713	CMK	blood:	n/a
24	chr13:76119663-76119713	GM12891	blood:	n/a
25	chr13:76119663-76119713	SKMC	muscle:	n/a
26	chr13:76119663-76119713	HCPEpiC	choroid plexus:	n/a
27	chr13:76119663-76119713	U87	brain:	n/a
28	chr13:76119663-76119713	HRE	kidney:	n/a
29	chr13:76119663-76119713	Jurkat	blood:	n/a
30	chr13:76119663-76119713	HUVEC	blood vessel:	n/a
31	chr13:76119663-76119713	NH-A	brain:	n/a
32	chr13:76119663-76119713	HNPCEpiC	eye:	n/a
33	chr13:76119663-76119713	AG09319	gingival:	n/a
34	chr13:76119663-76119713	GM06990	blood:	n/a
35	chr13:76119663-76119713	HPAEpiC	pulmonary alveolar:	n/a
36	chr13:76119663-76119713	NHBE	bronchial:	n/a
37	chr13:76119663-76119713	HepG2	liver:	n/a
38	chr13:76119663-76119713	HRCEpiC	kidney:	n/a
39	chr13:76119663-76119713	AG10803	skin:	n/a
40	chr13:76119663-76119713	Hela-S3	cervix:	n/a
41	chr13:76119663-76119713	MCF-7	breast:	n/a
42	chr13:76119663-76119713	ovcar-3	ovarian:	n/a
43	chr13:76119663-76119713	AoSMC	blood vessel:	n/a
44	chr13:76119663-76119713	PANC-1	pancreas:	n/a
45	chr13:76119663-76119713	ECC-1	luminal epithelium:	n/a
46	chr13:76119663-76119713	PrEC	prostate:	n/a
47	chr13:76119663-76119713	HAEpiC	amniotic membrane:	n/a
48	chr13:76119663-76119713	HCT-116	colon:	n/a
49	chr13:76119663-76119713	PFSK-1	brain:	n/a
50	chr13:76119663-76119713	HIPEpiC	eye:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76109687..76114004-chr13:76118514..76122227,3	K562	blood:

No data

Variant related genes	Relation type
UCHL3	CpG island
ENSG00000261553	CpG island
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12427755	0.86[ASN][1000 genomes]
rs12427931	0.86[ASN][1000 genomes]
rs12428989	0.86[ASN][1000 genomes]
rs1535724	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2031236	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2296146	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328959	0.88[ASN][1000 genomes]
rs2328960	0.92[ASN][1000 genomes]
rs2328963	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2328964	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2876706	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3783028	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3818355	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4611344	0.94[ASN][1000 genomes]
rs4885318	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4885322	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4885323	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4885324	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55777620	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55927305	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6562913	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6562914	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6562915	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6562916	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6562918	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7139740	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7317250	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73223968	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73223984	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7324195	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7339146	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7981698	0.86[ASN][1000 genomes]
rs7982517	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7986566	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7989568	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7996884	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8192755	0.94[ASN][1000 genomes]
rs8192756	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8192762	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8192763	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8192764	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9318361	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9530447	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9543972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9543976	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9543990	0.94[ASN][1000 genomes]
rs9543992	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9544004	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9565177	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9573591	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9573592	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs974373	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3326553	chr13:76106251-76120849	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3350275	chr13:76113551-76120649	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv3428782	chr13:76113751-76120749	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7329512	UCHL3	cis	brain	BrainEAC
rs7329512	RP11-173B14.5	cis	Artery Tibial	GTEx
rs7329512	UCHL3	cis	temporal cortex	BrainEAC

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76112200-76123000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:76112600-76122800	Weak transcription	Fetal Brain Male	brain
3	chr13:76112600-76123000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:76112600-76123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:76112600-76123600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:76112800-76122800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:76112800-76122800	Weak transcription	Brain Anterior Caudate	brain
8	chr13:76112800-76123000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:76112800-76123000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:76112800-76123000	Weak transcription	Adipose Nuclei	Adipose
11	chr13:76115600-76120200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:76115800-76120400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:76116000-76123000	Weak transcription	GM12878-XiMat	blood
14	chr13:76116400-76123200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr13:76118600-76120000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr13:76118800-76120000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:76119000-76120000	Enhancers	Placenta	Placenta
18	chr13:76119000-76121000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:76119200-76119800	Enhancers	K562	blood
20	chr13:76119200-76120000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:76119200-76120000	Enhancers	Psoas Muscle	Psoas
22	chr13:76119400-76123000	Weak transcription	Fetal Kidney	kidney
23	chr13:76119400-76123000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:76119600-76121800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:76119600-76121800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr13:76119600-76121800	Weak transcription	HepG2	liver
27	chr13:76119600-76121800	Weak transcription	Osteobl	bone
28	chr13:76119600-76123000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:76119600-76123000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:76119600-76123000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:76119600-76123000	Weak transcription	Liver	Liver
32	chr13:76119600-76123000	Weak transcription	Hela-S3	cervix
33	chr13:76119600-76123000	Weak transcription	HMEC	breast
34	chr13:76119600-76123000	Weak transcription	NHDF-Ad	bronchial
35	chr13:76119600-76123000	Weak transcription	NHEK	skin
36	chr13:76119600-76123200	Weak transcription	NHLF	lung

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