Variant report

Variant	rs35559254
Chromosome Location	chr14:56261869-56261870
allele	A/G
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	TFAP2A	chr14:56261386-56262073	Hela-S3	cervix:	n/a	chr14:56261578-56261593
2	POLR2A	chr14:56260413-56264038	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr14:56261357-56261965	MCF10A-Er-Src	breast:	n/a	chr14:56261564-56261575
4	STAT3	chr14:56261368-56262091	MCF10A-Er-Src	breast:	n/a	chr14:56261619-56261630
5	MYC	chr14:56261478-56261875	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr14:56261320-56261927	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr14:56261348-56262002	MCF10A-Er-Src	breast:	n/a	chr14:56261619-56261630
8	STAT3	chr14:56261334-56262136	MCF10A-Er-Src	breast:	n/a	chr14:56261619-56261630
9	CEBPB	chr14:56261358-56262134	Hela-S3	cervix:	n/a	n/a
10	FOS	chr14:56260896-56262109	MCF10A-Er-Src	breast:	n/a	chr14:56261564-56261575 chr14:56262028-56262036
11	TBP	chr14:56261406-56261926	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr14:56260935-56262748	K562	blood:	n/a	n/a
13	FOS	chr14:56261402-56261883	MCF10A-Er-Src	breast:	n/a	chr14:56261564-56261575
14	TFAP2C	chr14:56261206-56262049	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56260506..56263007-chr14:56264941..56267935,2	K562	blood:
2	chr14:56224023..56226441-chr14:56261049..56262918,2	MCF-7	breast:

Variant related genes	Relation type
LINC00520	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10134507	0.91[EUR][1000 genomes]
rs11620875	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11621835	0.83[EUR][1000 genomes]
rs11622627	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11622641	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11622710	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11624167	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11624516	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11625571	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11625869	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11626057	0.83[EUR][1000 genomes]
rs11627629	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11628040	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12890121	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12894971	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17253841	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17832467	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1999705	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1999706	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2105058	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2152287	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2184561	0.81[EUR][1000 genomes]
rs2342594	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2342595	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34096981	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34421003	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34540577	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34663121	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35290945	0.83[EUR][1000 genomes]
rs35527253	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36096896	0.84[EUR][1000 genomes]
rs36149160	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36188950	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601950	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55788205	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55837858	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57658601	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61975563	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61975579	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61977780	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61977781	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61977782	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61977785	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs999817	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901970	chr14:56183127-56265176	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv901971	chr14:56183127-56265176	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv901976	chr14:56192577-56265176	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56257400-56263000	Enhancers	Hela-S3	cervix
2	chr14:56257600-56271600	Weak transcription	Gastric	stomach
3	chr14:56260400-56262600	Enhancers	Stomach Mucosa	stomach
4	chr14:56260800-56262000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:56260800-56262600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr14:56260800-56262800	Enhancers	K562	blood
7	chr14:56261000-56262000	Weak transcription	Esophagus	oesophagus
8	chr14:56261000-56262200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:56261000-56262200	Enhancers	HMEC	breast
10	chr14:56261000-56264000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:56261200-56262000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:56261200-56262200	Enhancers	A549	lung
13	chr14:56261200-56262400	Enhancers	HUVEC	blood vessel
14	chr14:56261200-56262600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:56261600-56263400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:56261600-56265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:56261800-56262600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr14:56261800-56267400	Weak transcription	NHEK	skin

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