Variant report

Variant	rs379585
Chromosome Location	chr14:46361344-46361345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1073363	0.87[ASN][1000 genomes]
rs1951444	0.87[ASN][1000 genomes]
rs2768500	0.87[ASN][1000 genomes]
rs366029	0.94[ASN][1000 genomes]
rs368580	0.94[ASN][1000 genomes]
rs369490	0.87[ASN][1000 genomes]
rs374011	0.87[ASN][1000 genomes]
rs374049	0.87[ASN][1000 genomes]
rs376442	0.87[ASN][1000 genomes]
rs376700	0.87[ASN][1000 genomes]
rs378091	0.94[ASN][1000 genomes]
rs379548	0.94[ASN][1000 genomes]
rs380680	0.87[ASN][1000 genomes]
rs381435	0.94[ASN][1000 genomes]
rs383269	0.87[ASN][1000 genomes]
rs386404	0.87[ASN][1000 genomes]
rs389634	0.94[ASN][1000 genomes]
rs390205	0.94[ASN][1000 genomes]
rs390454	0.87[ASN][1000 genomes]
rs390826	0.87[ASN][1000 genomes]
rs391613	0.94[ASN][1000 genomes]
rs391919	0.94[ASN][1000 genomes]
rs392765	0.87[ASN][1000 genomes]
rs393652	0.87[ASN][1000 genomes]
rs394896	0.85[ASN][1000 genomes]
rs395117	0.87[ASN][1000 genomes]
rs402090	0.82[ASN][1000 genomes]
rs402603	0.94[ASN][1000 genomes]
rs410081	0.94[ASN][1000 genomes]
rs410600	0.94[ASN][1000 genomes]
rs410958	0.87[ASN][1000 genomes]
rs411613	0.87[ASN][1000 genomes]
rs418630	0.87[ASN][1000 genomes]
rs419538	0.94[ASN][1000 genomes]
rs419989	0.94[ASN][1000 genomes]
rs422454	0.94[ASN][1000 genomes]
rs423138	0.94[ASN][1000 genomes]
rs423583	0.94[ASN][1000 genomes]
rs426960	0.94[ASN][1000 genomes]
rs427586	0.94[ASN][1000 genomes]
rs428176	0.94[ASN][1000 genomes]
rs433340	0.87[ASN][1000 genomes]
rs435150	0.94[ASN][1000 genomes]
rs439245	0.81[ASN][1000 genomes]
rs439279	0.87[ASN][1000 genomes]
rs440589	0.94[ASN][1000 genomes]
rs440821	0.94[ASN][1000 genomes]
rs451316	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042989	chr14:45774194-46489107	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv901847	chr14:45797782-46607899	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1044871	chr14:46007760-46432325	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv456282	chr14:46024675-46458696	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv564729	chr14:46024675-46458696	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv564730	chr14:46122141-46729024	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv901851	chr14:46184595-46361884	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv901852	chr14:46187306-46361344	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv518816	chr14:46217649-46408343	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv832786	chr14:46279053-46427777	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1042258	chr14:46336392-46453750	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3504661	chr14:46340901-46586259	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3504662	chr14:46340901-46586259	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv456284	chr14:46347305-46405175	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv564732	chr14:46347305-46405175	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv3443622	chr14:46356082-46529198	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs379585	PRPF39	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46360200-46361400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:46360200-46362200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:46360400-46361600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:46360600-46361600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:46360600-46363200	Enhancers	Rectal Smooth Muscle	rectum
6	chr14:46360800-46361400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:46360800-46361400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:46360800-46361600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr14:46360800-46361600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:46360800-46361600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:46360800-46361600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:46360800-46361600	Active TSS	Colonic Mucosa	Colon
13	chr14:46360800-46361600	Enhancers	Fetal Muscle Leg	muscle
14	chr14:46361000-46361400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:46361000-46361400	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr14:46361000-46361400	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr14:46361000-46361800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:46361000-46361800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:46361200-46361400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:46361200-46361400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:46361200-46361400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:46361200-46361400	Enhancers	Pancreas	Pancrea
23	chr14:46361200-46361400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr14:46361200-46361400	Enhancers	HMEC	breast
25	chr14:46361200-46361600	Enhancers	Esophagus	oesophagus
26	chr14:46361200-46361600	Enhancers	Stomach Smooth Muscle	stomach
27	chr14:46361200-46361600	Enhancers	NHEK	skin
28	chr14:46361200-46361800	Enhancers	Fetal Kidney	kidney

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