Variant report

Variant	rs73065118
Chromosome Location	chr3:46875716-46875717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46875704-46875754	GM12878	blood:	n/a
2	chr3:46875704-46875754	PrEC	prostate:	n/a
3	chr3:46875709-46875759	SAEC	small airway:	n/a
4	chr3:46875704-46875754	U87	brain:	n/a
5	chr3:46875709-46875759	HCPEpiC	choroid plexus:	n/a
6	chr3:46875704-46875754	HPAEpiC	pulmonary alveolar:	n/a
7	chr3:46875709-46875759	AG04450	lung:	fetal
8	chr3:46875709-46875759	HUVEC	blood vessel:	n/a
9	chr3:46875709-46875759	SKMC	muscle:	n/a
10	chr3:46875709-46875759	NHBE	bronchial:	n/a
11	chr3:46875704-46875754	MCF-7	breast:	n/a
12	chr3:46875704-46875754	AG04450	lung:	fetal
13	chr3:46875704-46875754	H1-hESC	embryonic stem cell:	embryo
14	chr3:46875709-46875759	HMEC	breast:	n/a
15	chr3:46875704-46875754	NB4	blood:	n/a
16	chr3:46875704-46875754	HL-60	blood:	n/a
17	chr3:46875709-46875759	MCF-7	breast:	n/a
18	chr3:46875709-46875759	AG10803	skin:	n/a
19	chr3:46875704-46875754	HMEC	breast:	n/a
20	chr3:46875704-46875754	HRPEpiC	eye:	n/a
21	chr3:46875709-46875759	GM12878	blood:	n/a
22	chr3:46875704-46875754	HAEpiC	amniotic membrane:	n/a
23	chr3:46875704-46875754	NT2-D1	testis:	n/a
24	chr3:46875709-46875759	HRCEpiC	kidney:	n/a
25	chr3:46875704-46875754	HCF	heart:	n/a
26	chr3:46875709-46875759	Hepatocyte	liver:	n/a
27	chr3:46875709-46875759	NHDF-neo	bronchial:	n/a
28	chr3:46875709-46875759	Hela-S3	cervix:	n/a
29	chr3:46875709-46875759	MCF10A-Er-Src	breast:	n/a
30	chr3:46875704-46875754	SKMC	muscle:	n/a
31	chr3:46875704-46875754	HRE	kidney:	n/a
32	chr3:46875709-46875759	H1-hESC	embryonic stem cell:	embryo
33	chr3:46875709-46875759	GM19239	blood:	n/a
34	chr3:46875709-46875759	HIPEpiC	eye:	n/a
35	chr3:46875709-46875759	IMR90	lung:	fetal
36	chr3:46875704-46875754	GM12891	blood:	n/a
37	chr3:46875704-46875754	IMR90	lung:	fetal
38	chr3:46875709-46875759	HRE	kidney:	n/a
39	chr3:46875704-46875754	PANC-1	pancreas:	n/a
40	chr3:46875709-46875759	ProgFib	skin:	n/a
41	chr3:46875704-46875754	LNCaP	prostate:	n/a
42	chr3:46875704-46875754	GM19239	blood:	n/a
43	chr3:46875704-46875754	MCF10A-Er-Src	breast:	n/a
44	chr3:46875704-46875754	PFSK-1	brain:	n/a
45	chr3:46875709-46875759	GM06990	blood:	n/a
46	chr3:46875709-46875759	PANC-1	pancreas:	n/a
47	chr3:46875704-46875754	Hepatocyte	liver:	n/a
48	chr3:46875704-46875754	AG04449	skin:	fetal
49	chr3:46875709-46875759	HEK293	kidney:	embryo
50	chr3:46875704-46875754	GM12892	blood:	n/a

No data

Variant related genes	Relation type
PRSS42	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12487126	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56387622	0.81[ASN][1000 genomes]
rs61351097	0.80[ASN][1000 genomes]
rs67529903	0.81[ASN][1000 genomes]
rs6786689	0.82[ASN][1000 genomes]
rs6787229	0.81[ASN][1000 genomes]
rs6796502	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73065135	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv876745	chr3:46753976-46884552	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv2763784	chr3:46789175-46880002	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1000774	chr3:46801805-46878126	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1004452	chr3:46801805-46880140	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1007196	chr3:46809376-46880140	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv590204	chr3:46852679-46901654	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv590205	chr3:46852679-46929546	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1003979	chr3:46853374-46943854	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv590206	chr3:46873957-46935527	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46867800-46877200	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:46870400-46876000	Strong transcription	Right Ventricle	heart
3	chr3:46870400-46886600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:46870600-46878800	Strong transcription	Left Ventricle	heart
5	chr3:46871400-46879400	Weak transcription	Fetal Heart	heart
6	chr3:46871800-46880200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:46872800-46876800	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:46873400-46877200	Weak transcription	Fetal Stomach	stomach
9	chr3:46873800-46879000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:46874200-46875800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:46874400-46877200	Weak transcription	Fetal Intestine Small	intestine
12	chr3:46875600-46877400	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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