Variant report

Variant	rs34403994
Chromosome Location	chr14:56263600-56263601
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	FOS	chr14:56263323-56263663	HUVEC	blood vessel:	n/a	chr14:56263496-56263507
2	MYC	chr14:56263191-56263853	K562	blood:	n/a	n/a
3	POLR2A	chr14:56260413-56264038	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr14:56263330-56263619	MCF10A-Er-Src	breast:	n/a	chr14:56263496-56263507
5	TBP	chr14:56263273-56263608	K562	blood:	n/a	n/a
6	MYC	chr14:56263179-56263692	K562	blood:	n/a	n/a
7	RCOR1	chr14:56263312-56263712	K562	blood:	n/a	n/a
8	JUND	chr14:56263233-56263694	K562	blood:	n/a	n/a
9	ARID3A	chr14:56263450-56263638	K562	blood:	n/a	n/a
10	STAT3	chr14:56263442-56263633	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr14:56263341-56263649	K562	blood:	n/a	n/a
12	IRF1	chr14:56263317-56263661	K562	blood:	n/a	n/a
13	ZBTB33	chr14:56263303-56263610	K562	blood:	n/a	n/a
14	CHD2	chr14:56263307-56263644	K562	blood:	n/a	n/a

Variant related genes	Relation type
LINC00520	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12588231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12588715	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12589557	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12590605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12878170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12886283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12886883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12887415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12888134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12891989	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12892029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12892971	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12896271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12898084	1.00[AFR][1000 genomes]
rs17128832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17128847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17128862	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17128871	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17128875	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17128879	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1953359	0.82[ASN][1000 genomes]
rs1953361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2095490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34130924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34181761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34190854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34749214	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34831029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34973073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35177157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35201150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35361184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35604109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35657227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35787613	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35847182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35874101	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35969016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57997565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71412699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7144347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7149370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7154675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7158865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7161015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56257600-56271600	Weak transcription	Gastric	stomach
2	chr14:56261000-56264000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:56261600-56265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:56261800-56267400	Weak transcription	NHEK	skin
5	chr14:56262000-56269600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:56262200-56267600	Weak transcription	HMEC	breast
7	chr14:56262200-56269800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:56262400-56263600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:56262400-56263800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:56262600-56263600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:56262600-56263800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:56262600-56263800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:56262600-56264000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:56262600-56264600	Weak transcription	Stomach Mucosa	stomach
15	chr14:56262600-56265200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:56262600-56269600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:56262800-56263600	Weak transcription	K562	blood
18	chr14:56262800-56263800	Enhancers	HUVEC	blood vessel
19	chr14:56263000-56267000	Weak transcription	Hela-S3	cervix
20	chr14:56263400-56263600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:56263400-56264000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:56263400-56266400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:56263600-56264000	Enhancers	K562	blood
24	chr14:56263600-56266800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:56263600-56268000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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