Variant report

Variant	rs11625571
Chromosome Location	chr14:56262936-56262937
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	POLR2A	chr14:56260413-56264038	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56260506..56263007-chr14:56264941..56267935,2	K562	blood:

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];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11621835	0.84[EUR][1000 genomes]
rs11622627	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11622641	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11622710	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11624167	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624516	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11625869	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11626057	0.84[EUR][1000 genomes]
rs11627629	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11628040	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12890121	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12894971	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17253841	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17832467	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1999705	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1999706	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2105058	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2152287	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2184561	0.82[EUR][1000 genomes]
rs2342594	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2342595	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34096981	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34421003	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34540577	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34663121	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35290945	0.84[EUR][1000 genomes]
rs35527253	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35559254	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36096896	0.85[EUR][1000 genomes]
rs36149160	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36188950	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4601950	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55788205	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55837858	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57658601	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61975563	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61975579	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61977780	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61977781	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61977782	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61977785	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs999817	0.86[EUR][1000 genomes];0.85[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:22 , 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	chr14:56261000-56264000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:56261600-56263400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:56261600-56265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:56261800-56267400	Weak transcription	NHEK	skin
7	chr14:56262000-56269600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:56262200-56267600	Weak transcription	HMEC	breast
9	chr14:56262200-56269800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:56262400-56263600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:56262400-56263800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:56262600-56263400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:56262600-56263600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:56262600-56263800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:56262600-56263800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:56262600-56264000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:56262600-56264600	Weak transcription	Stomach Mucosa	stomach
18	chr14:56262600-56265200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:56262600-56269600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:56262800-56263400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:56262800-56263600	Weak transcription	K562	blood
22	chr14:56262800-56263800	Enhancers	HUVEC	blood vessel

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