Variant report

Variant	rs1958078
Chromosome Location	chr14:70354858-70354859
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr14:70354463-70355292	HepG2	liver:	n/a	chr14:70354925-70354934 chr14:70354924-70354935
2	ZNF263	chr14:70354641-70355653	HEK293-T-REx	kidney:	n/a	n/a
3	FOXA1	chr14:70354600-70355026	HepG2	liver:	n/a	n/a
4	FOS	chr14:70354392-70355289	MCF10A-Er-Src	breast:	n/a	chr14:70354925-70354934 chr14:70354924-70354935
5	SMC3	chr14:70354435-70355318	HepG2	liver:	n/a	chr14:70355225-70355233 chr14:70355225-70355239
6	NR3C1	chr14:70354651-70355025	A549	lung:	n/a	chr14:70354899-70354913 chr14:70354895-70354916 chr14:70354899-70354914 chr14:70354898-70354914
7	MAX	chr14:70354477-70355174	HepG2	liver:	n/a	chr14:70354924-70354933
8	HNF4G	chr14:70354458-70355392	HepG2	liver:	n/a	chr14:70354827-70354841 chr14:70354827-70354841 chr14:70354827-70354840 chr14:70355071-70355085
9	TEAD4	chr14:70354401-70355300	HepG2	liver:	n/a	n/a
10	FOS	chr14:70354262-70355107	MCF10A-Er-Src	breast:	n/a	chr14:70354925-70354934 chr14:70354924-70354935
11	RCOR1	chr14:70353476-70355510	IMR90	lung:	n/a	n/a
12	CEBPB	chr14:70354673-70355042	HepG2	liver:	n/a	n/a
13	ZBTB7A	chr14:70354765-70355016	HepG2	liver:	n/a	chr14:70354802-70354810
14	POLR2A	chr14:70354247-70355073	HepG2	liver:	n/a	n/a
15	MBD4	chr14:70354389-70355344	HepG2	liver:	n/a	n/a
16	FOXA1	chr14:70354584-70355064	HepG2	liver:	n/a	n/a
17	NFIC	chr14:70354468-70355191	HepG2	liver:	n/a	n/a
18	NR3C1	chr14:70354786-70354982	A549	lung:	n/a	chr14:70354899-70354913 chr14:70354895-70354916 chr14:70354899-70354914 chr14:70354898-70354914
19	JUND	chr14:70354422-70355364	HepG2	liver:	n/a	chr14:70354957-70354968 chr14:70354923-70354934 chr14:70354925-70354934 chr14:70354924-70354935
20	POLR2A	chr14:70354135-70355131	U87	brain:	n/a	n/a
21	MYC	chr14:70354839-70355271	MCF10A-Er-Src	breast:	n/a	chr14:70354924-70354933
22	FOXA1	chr14:70354603-70355122	HepG2	liver:	n/a	n/a
23	POLR2A	chr14:70354281-70355136	U87	brain:	n/a	n/a
24	RAD21	chr14:70354612-70355413	HepG2	liver:	n/a	chr14:70355224-70355243
25	BRCA1	chr14:70354806-70355173	HepG2	liver:	n/a	n/a
26	CEBPB	chr14:70354660-70355221	HepG2	liver:	n/a	n/a
27	JUND	chr14:70354420-70355094	HepG2	liver:	n/a	chr14:70354957-70354968 chr14:70354923-70354934 chr14:70354925-70354934 chr14:70354924-70354935
28	RCOR1	chr14:70354635-70355054	HepG2	liver:	n/a	n/a
29	RAD21	chr14:70354532-70354858	HepG2	liver:	n/a	chr14:70354577-70354591
30	EP300	chr14:70354599-70355091	HepG2	liver:	n/a	n/a
31	POLR2A	chr14:70354613-70355070	HepG2	liver:	n/a	n/a
32	EP300	chr14:70354485-70355131	HepG2	liver:	n/a	n/a
33	SP1	chr14:70354381-70355195	HepG2	liver:	n/a	n/a
34	CEBPB	chr14:70354652-70354889	HepG2	liver:	n/a	n/a
35	HEY1	chr14:70354378-70355042	HepG2	liver:	n/a	n/a
36	EP300	chr14:70354420-70355368	HepG2	liver:	n/a	n/a
37	FOXA2	chr14:70354524-70355028	HepG2	liver:	n/a	n/a
38	POLR2A	chr14:70354332-70355118	Hela-S3	cervix:	n/a	n/a
39	MYBL2	chr14:70354512-70355239	HepG2	liver:	n/a	n/a
40	SRF	chr14:70354675-70354952	HepG2	liver:	n/a	chr14:70354812-70354830
41	HNF4A	chr14:70354550-70355066	HepG2	liver:	n/a	chr14:70354827-70354841 chr14:70354827-70354841 chr14:70354827-70354840
42	FOS	chr14:70354336-70355271	MCF10A-Er-Src	breast:	n/a	chr14:70354925-70354934 chr14:70354924-70354935
43	FOSL2	chr14:70354286-70355161	HepG2	liver:	n/a	chr14:70354924-70354935 chr14:70354925-70354934 chr14:70354924-70354935
44	RFX5	chr14:70354599-70355102	HepG2	liver:	n/a	n/a
45	MYC	chr14:70354792-70354929	HepG2	liver:	n/a	n/a
46	FOSL2	chr14:70354692-70355124	A549	lung:	n/a	chr14:70354924-70354935 chr14:70354925-70354934 chr14:70354924-70354935
47	NR3C1	chr14:70354691-70355098	A549	lung:	n/a	chr14:70354899-70354913 chr14:70354895-70354916 chr14:70354899-70354914 chr14:70354898-70354914
48	NR3C1	chr14:70354583-70355076	A549	lung:	n/a	chr14:70354899-70354913 chr14:70354895-70354916 chr14:70354899-70354914 chr14:70354898-70354914
49	HDAC2	chr14:70354349-70355152	HepG2	liver:	n/a	n/a
50	MAFK	chr14:70354677-70354936	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70354846-70354896	GM12878	blood:	n/a
2	chr14:70354846-70354896	BJ	skin:	n/a
3	chr14:70354846-70354896	HPAEpiC	pulmonary alveolar:	n/a
4	chr14:70354846-70354896	HNPCEpiC	eye:	n/a
5	chr14:70354846-70354896	HMEC	breast:	n/a
6	chr14:70354846-70354896	H1-hESC	embryonic stem cell:	embryo
7	chr14:70354846-70354896	PrEC	prostate:	n/a
8	chr14:70354846-70354896	NB4	blood:	n/a
9	chr14:70354846-70354896	AG09309	skin:	n/a
10	chr14:70354846-70354896	NHDF-neo	bronchial:	n/a
11	chr14:70354846-70354896	AoSMC	blood vessel:	n/a
12	chr14:70354846-70354896	HRCEpiC	kidney:	n/a
13	chr14:70354846-70354896	RPTEC	kidney:	n/a
14	chr14:70354846-70354896	GM12892	blood:	n/a
15	chr14:70354846-70354896	PANC-1	pancreas:	n/a
16	chr14:70354846-70354896	Hela-S3	cervix:	n/a
17	chr14:70354846-70354896	SK-N-MC	brain:	n/a
18	chr14:70354846-70354896	PFSK-1	brain:	n/a
19	chr14:70354846-70354896	Hepatocyte	liver:	n/a
20	chr14:70354846-70354896	T-47D	breast:	n/a
21	chr14:70354846-70354896	GM19239	blood:	n/a
22	chr14:70354846-70354896	K562	blood:	n/a
23	chr14:70354846-70354896	A549	lung:	n/a
24	chr14:70354846-70354896	Caco-2	colon:	n/a
25	chr14:70354846-70354896	CMK	blood:	n/a
26	chr14:70354846-70354896	SK-N-SH_RA	brain:	n/a
27	chr14:70354846-70354896	HL-60	blood:	n/a
28	chr14:70354846-70354896	HEK293	kidney:	embryo
29	chr14:70354846-70354896	SAEC	small airway:	n/a
30	chr14:70354846-70354896	ProgFib	skin:	n/a
31	chr14:70354846-70354896	MCF10A-Er-Src	breast:	n/a
32	chr14:70354846-70354896	SK-N-SH	brain:	n/a
33	chr14:70354846-70354896	HepG2	liver:	n/a
34	chr14:70354846-70354896	U87	brain:	n/a
35	chr14:70354846-70354896	HRE	kidney:	n/a
36	chr14:70354846-70354896	AG04449	skin:	fetal
37	chr14:70354846-70354896	BE2_C	brain:	n/a
38	chr14:70354846-70354896	HRPEpiC	eye:	n/a
39	chr14:70354846-70354896	ovcar-3	ovarian:	n/a
40	chr14:70354846-70354896	ECC-1	luminal epithelium:	n/a
41	chr14:70354846-70354896	HCPEpiC	choroid plexus:	n/a
42	chr14:70354846-70354896	GM06990	blood:	n/a
43	chr14:70354846-70354896	NH-A	brain:	n/a
44	chr14:70354846-70354896	LNCaP	prostate:	n/a
45	chr14:70354846-70354896	HCM	heart:	n/a
46	chr14:70354846-70354896	SKMC	muscle:	n/a
47	chr14:70354846-70354896	HCT-116	colon:	n/a
48	chr14:70354846-70354896	Jurkat	blood:	n/a
49	chr14:70354846-70354896	HEEpiC	esophagus:	n/a
50	chr14:70354846-70354896	IMR90	lung:	fetal

Variant related genes	Relation type
RPL7AP6	TF binding region
RPL7AP6	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17558231	1.00[ASN][1000 genomes]
rs17558357	1.00[ASN][1000 genomes]
rs58657024	1.00[ASN][1000 genomes]
rs61980565	1.00[ASN][1000 genomes]
rs61980566	1.00[ASN][1000 genomes]
rs61980623	1.00[ASN][1000 genomes]
rs61983523	1.00[ASN][1000 genomes]
rs61983525	1.00[ASN][1000 genomes]
rs73286949	1.00[ASN][1000 genomes]
rs749396	1.00[ASN][1000 genomes]
rs8003374	1.00[ASN][1000 genomes]
rs8020942	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv3335532	chr14:70351055-70356429	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
5	esv3530187	chr14:70351090-70356419	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
6	esv3530188	chr14:70351121-70356378	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
7	esv3530189	chr14:70351121-70356378	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70349600-70356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:70350000-70355000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:70350200-70361600	Weak transcription	Brain Germinal Matrix	brain
4	chr14:70352600-70355800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:70353000-70356400	Enhancers	Liver	Liver
6	chr14:70353200-70355200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:70353200-70355400	Enhancers	NHEK	skin
8	chr14:70353200-70355800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:70353200-70356200	Enhancers	HMEC	breast
10	chr14:70353400-70355400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:70353400-70356000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:70353400-70356000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:70353600-70355800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:70353800-70355200	Weak transcription	Fetal Brain Male	brain
15	chr14:70354000-70355000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:70354000-70355000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:70354000-70355200	Enhancers	NH-A	brain
18	chr14:70354200-70355000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:70354200-70355200	Flanking Active TSS	HepG2	liver
20	chr14:70354400-70355400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:70354400-70356200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:70354600-70355400	Genic enhancers	Hela-S3	cervix
23	chr14:70354800-70355000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:70354800-70355000	Enhancers	Fetal Brain Female	brain
25	chr14:70354800-70355000	Enhancers	HSMM	muscle
26	chr14:70354800-70355400	Enhancers	Osteobl	bone
27	chr14:70354800-70356000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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