Variant report

Variant	rs1957313
Chromosome Location	chr14:36527235-36527236
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	FOXM1	chr14:36526719-36527510	ECC-1	luminal epithelium:	n/a	n/a
2	RFX5	chr14:36526882-36527314	Hela-S3	cervix:	n/a	n/a
3	JUND	chr14:36526888-36527373	Hela-S3	cervix:	n/a	chr14:36527159-36527167 chr14:36527157-36527168 chr14:36527159-36527168 chr14:36527160-36527167
4	JUND	chr14:36527008-36527307	HepG2	liver:	n/a	chr14:36527159-36527167 chr14:36527157-36527168 chr14:36527159-36527168 chr14:36527160-36527167
5	KAP1	chr14:36526117-36527420	HEK293	kidney:	n/a	n/a
6	JUND	chr14:36526980-36527390	HCT-116	colon:	n/a	chr14:36527159-36527167 chr14:36527157-36527168 chr14:36527159-36527168 chr14:36527160-36527167
7	JUN	chr14:36526903-36527329	Hela-S3	cervix:	n/a	chr14:36527159-36527167 chr14:36527159-36527168 chr14:36527160-36527167
8	FOS	chr14:36526963-36527356	MCF10A-Er-Src	breast:	n/a	chr14:36527159-36527167 chr14:36527159-36527168 chr14:36527160-36527167
9	STAT3	chr14:36526965-36527252	MCF10A-Er-Src	breast:	n/a	chr14:36527158-36527167 chr14:36527159-36527168
10	FOS	chr14:36526649-36527416	MCF10A-Er-Src	breast:	n/a	chr14:36527159-36527167 chr14:36527159-36527168 chr14:36527160-36527167
11	CTCF	chr14:36527180-36527330	HEEpiC	esophagus:	n/a	n/a
12	NFIC	chr14:36526705-36527885	ECC-1	luminal epithelium:	n/a	n/a
13	FOSL1	chr14:36526864-36527442	HCT-116	colon:	n/a	chr14:36527159-36527167 chr14:36527159-36527168 chr14:36527160-36527167 chr14:36527422-36527434
14	MAX	chr14:36526840-36527387	ECC-1	luminal epithelium:	n/a	chr14:36527159-36527168 chr14:36527158-36527167
15	FOS	chr14:36526925-36527320	Hela-S3	cervix:	n/a	chr14:36527159-36527167 chr14:36527159-36527168 chr14:36527160-36527167
16	FOSL2	chr14:36526899-36527413	MCF-7	breast:	n/a	chr14:36527159-36527167 chr14:36527159-36527168 chr14:36527160-36527167
17	TCF12	chr14:36526833-36527530	ECC-1	luminal epithelium:	n/a	n/a
18	FOSL1	chr14:36526931-36527333	HCT-116	colon:	n/a	chr14:36527159-36527167 chr14:36527159-36527168 chr14:36527160-36527167
19	MYC	chr14:36526988-36527463	MCF10A-Er-Src	breast:	n/a	chr14:36527159-36527168 chr14:36527158-36527167
20	STAT3	chr14:36526989-36527296	Hela-S3	cervix:	n/a	chr14:36527158-36527167 chr14:36527159-36527168
21	SRF	chr14:36526953-36527446	ECC-1	luminal epithelium:	n/a	chr14:36527338-36527351 chr14:36527335-36527353
22	STAT3	chr14:36526901-36527320	MCF10A-Er-Src	breast:	n/a	chr14:36527158-36527167 chr14:36527159-36527168
23	MYC	chr14:36526992-36527421	MCF10A-Er-Src	breast:	n/a	chr14:36527159-36527168 chr14:36527158-36527167
24	TEAD4	chr14:36526892-36527457	ECC-1	luminal epithelium:	n/a	n/a
25	EP300	chr14:36526966-36527472	ECC-1	luminal epithelium:	n/a	chr14:36527158-36527167 chr14:36527159-36527168
26	ZNF217	chr14:36527053-36527285	MCF-7	breast:	n/a	n/a
27	NFIC	chr14:36526800-36527450	ECC-1	luminal epithelium:	n/a	n/a
28	EP300	chr14:36526796-36527568	ECC-1	luminal epithelium:	n/a	chr14:36527158-36527167 chr14:36527159-36527168
29	CTCF	chr14:36527100-36527250	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr14:36527140-36527290	NHEK	skin:	n/a	n/a
31	TCF12	chr14:36526870-36527511	ECC-1	luminal epithelium:	n/a	n/a
32	JUN	chr14:36527092-36527268	HepG2	liver:	n/a	chr14:36527159-36527167 chr14:36527159-36527168 chr14:36527160-36527167
33	EP300	chr14:36526926-36527342	Hela-S3	cervix:	n/a	chr14:36527158-36527167 chr14:36527159-36527168
34	CTCF	chr14:36527220-36527370	RPTEC	kidney:	n/a	n/a
35	STAT3	chr14:36526893-36527246	MCF10A-Er-Src	breast:	n/a	chr14:36527158-36527167 chr14:36527159-36527168
36	RAD21	chr14:36526986-36527243	Hela-S3	cervix:	n/a	n/a
37	GATA3	chr14:36526802-36527265	MCF-7	breast:	n/a	chr14:36526997-36527018 chr14:36527003-36527013 chr14:36527000-36527016 chr14:36527004-36527011 chr14:36527004-36527011 chr14:36527004-36527011 chr14:36527160-36527169 chr14:36527005-36527022
38	RAD21	chr14:36526950-36527420	ECC-1	luminal epithelium:	n/a	n/a
39	GATA3	chr14:36526797-36527331	MCF-7	breast:	n/a	chr14:36526997-36527018 chr14:36527003-36527013 chr14:36527000-36527016 chr14:36527004-36527011 chr14:36527004-36527011 chr14:36527004-36527011 chr14:36527160-36527169 chr14:36527005-36527022
40	MAFK	chr14:36526854-36527422	Hela-S3	cervix:	n/a	chr14:36526939-36526959
41	TEAD4	chr14:36526834-36527462	ECC-1	luminal epithelium:	n/a	n/a
42	BRCA1	chr14:36526993-36527320	Hela-S3	cervix:	n/a	n/a
43	JUND	chr14:36526955-36527317	HCT-116	colon:	n/a	chr14:36527159-36527167 chr14:36527157-36527168 chr14:36527159-36527168 chr14:36527160-36527167
44	MAFK	chr14:36527187-36527350	HepG2	liver:	n/a	n/a
45	RCOR1	chr14:36526962-36527282	Hela-S3	cervix:	n/a	n/a
46	STAT3	chr14:36527059-36527346	MCF10A-Er-Src	breast:	n/a	chr14:36527158-36527167 chr14:36527159-36527168
47	FOS	chr14:36526767-36527379	MCF10A-Er-Src	breast:	n/a	chr14:36527159-36527167 chr14:36527159-36527168 chr14:36527160-36527167
48	GATA3	chr14:36526875-36527271	T-47D	breast:	n/a	chr14:36526997-36527018 chr14:36527003-36527013 chr14:36527000-36527016 chr14:36527004-36527011 chr14:36527004-36527011 chr14:36527004-36527011 chr14:36527160-36527169 chr14:36527005-36527022
49	CEBPB	chr14:36526660-36527345	Hela-S3	cervix:	n/a	chr14:36527111-36527122
50	FOS	chr14:36526737-36527413	MCF10A-Er-Src	breast:	n/a	chr14:36527159-36527167 chr14:36527159-36527168 chr14:36527160-36527167

Variant related genes	Relation type
ILF2P2	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11156905	0.83[ASN][1000 genomes]
rs1333312	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1333313	0.85[ASN][1000 genomes]
rs1742867	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1742868	0.82[CEU][hapmap]
rs1953119	0.85[ASN][1000 genomes]
rs1957314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2780312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780313	0.85[CEU][hapmap]
rs2780314	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs371191	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs381529	0.85[ASN][1000 genomes]
rs395212	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs395660	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs398467	0.93[ASN][1000 genomes]
rs408558	0.97[ASN][1000 genomes]
rs408783	0.98[ASN][1000 genomes]
rs410546	0.96[ASN][1000 genomes]
rs437723	0.95[ASN][1000 genomes]
rs448145	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6571735	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs7147401	0.82[CEU][hapmap]
rs8003253	0.83[EUR][1000 genomes]
rs8007617	0.82[EUR][1000 genomes]
rs8007774	0.88[ASN][1000 genomes]
rs8008989	0.82[EUR][1000 genomes]
rs8020453	0.80[EUR][1000 genomes]
rs847514	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs847515	0.97[ASN][1000 genomes]
rs847516	0.80[EUR][1000 genomes]
rs860200	0.84[CEU][hapmap]
rs944290	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051045	chr14:36116503-36764947	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv542038	chr14:36116503-36764947	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1051147	chr14:36413342-36562863	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1957313	RP11-116N8.4	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36523800-36530800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:36524200-36530200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:36524200-36538200	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:36526200-36528200	Enhancers	NHEK	skin
5	chr14:36526200-36535800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:36526400-36527400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:36526400-36527400	Enhancers	HMEC	breast
8	chr14:36526800-36528800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:36527000-36527400	Enhancers	NH-A	brain
10	chr14:36527000-36528200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:36527000-36528200	Enhancers	Hela-S3	cervix
12	chr14:36527200-36527400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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