Variant report

Variant	rs1779619
Chromosome Location	chr14:41423886-41423887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:41423630-41424223	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:41423478-41424225	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:41423746-41423994	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:41423885-41423975	A549	lung:	n/a	n/a
5	FOXA2	chr14:41423326-41424027	A549	lung:	n/a	n/a
6	POLR2A	chr14:41423745-41424227	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:41423749-41423988	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr14:41423717-41424235	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:41423839-41423889	ProgFib	skin:	n/a
2	chr14:41423839-41423889	SK-N-SH_RA	brain:	n/a
3	chr14:41423839-41423889	LNCaP	prostate:	n/a
4	chr14:41423839-41423889	HCM	heart:	n/a
5	chr14:41423839-41423889	HCT-116	colon:	n/a
6	chr14:41423839-41423889	HepG2	liver:	n/a
7	chr14:41423839-41423889	HRPEpiC	eye:	n/a
8	chr14:41423839-41423889	NHBE	bronchial:	n/a
9	chr14:41423839-41423889	PANC-1	pancreas:	n/a
10	chr14:41423839-41423889	HCPEpiC	choroid plexus:	n/a
11	chr14:41423839-41423889	IMR90	lung:	fetal
12	chr14:41423839-41423889	MCF10A-Er-Src	breast:	n/a
13	chr14:41423839-41423889	GM12878	blood:	n/a
14	chr14:41423839-41423889	HL-60	blood:	n/a
15	chr14:41423839-41423889	AoSMC	blood vessel:	n/a
16	chr14:41423839-41423889	HIPEpiC	eye:	n/a
17	chr14:41423839-41423889	BE2_C	brain:	n/a
18	chr14:41423839-41423889	HAEpiC	amniotic membrane:	n/a
19	chr14:41423839-41423889	ovcar-3	ovarian:	n/a
20	chr14:41423839-41423889	Hepatocyte	liver:	n/a
21	chr14:41423839-41423889	PrEC	prostate:	n/a
22	chr14:41423839-41423889	HMEC	breast:	n/a
23	chr14:41423839-41423889	HCF	heart:	n/a
24	chr14:41423839-41423889	AG04449	skin:	fetal
25	chr14:41423839-41423889	NB4	blood:	n/a
26	chr14:41423839-41423889	BJ	skin:	n/a
27	chr14:41423839-41423889	HNPCEpiC	eye:	n/a
28	chr14:41423839-41423889	NH-A	brain:	n/a
29	chr14:41423839-41423889	RPTEC	kidney:	n/a
30	chr14:41423839-41423889	Jurkat	blood:	n/a
31	chr14:41423839-41423889	NT2-D1	testis:	n/a
32	chr14:41423839-41423889	ECC-1	luminal epithelium:	n/a
33	chr14:41423839-41423889	U87	brain:	n/a
34	chr14:41423839-41423889	SK-N-MC	brain:	n/a
35	chr14:41423839-41423889	HPAEpiC	pulmonary alveolar:	n/a
36	chr14:41423839-41423889	Caco-2	colon:	n/a
37	chr14:41423839-41423889	AG09319	gingival:	n/a
38	chr14:41423839-41423889	SK-N-SH	brain:	n/a
39	chr14:41423839-41423889	HUVEC	blood vessel:	n/a
40	chr14:41423839-41423889	GM12891	blood:	n/a
41	chr14:41423839-41423889	AG04450	lung:	fetal
42	chr14:41423839-41423889	HRCEpiC	kidney:	n/a
43	chr14:41423839-41423889	SAEC	small airway:	n/a
44	chr14:41423839-41423889	GM12892	blood:	n/a
45	chr14:41423839-41423889	GM06990	blood:	n/a
46	chr14:41423839-41423889	CMK	blood:	n/a
47	chr14:41423839-41423889	HEK293	kidney:	embryo
48	chr14:41423839-41423889	MCF-7	breast:	n/a
49	chr14:41423839-41423889	HEEpiC	esophagus:	n/a
50	chr14:41423839-41423889	K562	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-1	chr14:41423822-41424157	XLOC_010813

No data

Variant related genes	Relation type
ENSG00000251363	TF binding region
ENSG00000251363	CpG island

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1176965	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1176967	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1176971	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1176975	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1176982	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1176983	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1176984	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1176986	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1176989	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1176990	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1182565	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1669561	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1669565	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1779591	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1779594	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1779595	0.86[AMR][1000 genomes]
rs1779597	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2600589	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2600591	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2799810	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901664	chr14:40663978-41432350	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv901669	chr14:40832004-41432350	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1041122	chr14:40956143-41869421	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv564464	chr14:40957542-41871875	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv534448	chr14:40960013-41634431	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1052990	chr14:41089513-41575560	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1047283	chr14:41206503-41535327	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1053355	chr14:41206503-41538195	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1054902	chr14:41207300-41538195	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1038788	chr14:41216776-41647283	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv542053	chr14:41216776-41647283	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1052984	chr14:41234592-41437009	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv901693	chr14:41260584-41495543	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv2752629	chr14:41285921-41509838	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv456221	chr14:41310156-41547184	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv564469	chr14:41310156-41547184	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv901696	chr14:41350392-41437680	Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv456223	chr14:41405093-41539775	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv564470	chr14:41405093-41539775	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41423600-41425000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:41423600-41426000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:41423800-41425600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr14:41423800-41426000	Active TSS	HUES6 Cell Line	embryonic stem cell

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