Variant report

Variant	rs34951369
Chromosome Location	chr15:76067771-76067772
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	TCF7L2	chr15:76067584-76068829	HCT-116	colon:	n/a	chr15:76068632-76068648 chr15:76068636-76068645 chr15:76068636-76068646 chr15:76068632-76068648 chr15:76067794-76067810 chr15:76068530-76068539 chr15:76067795-76067809 chr15:76068633-76068647 chr15:76068635-76068644 chr15:76067798-76067807 chr15:76067794-76067810 chr15:76067795-76067809
2	TBP	chr15:76067765-76067772	K562	blood:	n/a	n/a
3	TCF7L2	chr15:76067639-76068009	Hela-S3	cervix:	n/a	chr15:76067794-76067810 chr15:76067795-76067809 chr15:76067798-76067807 chr15:76067794-76067810 chr15:76067795-76067809
4	MAZ	chr15:76067672-76067963	K562	blood:	n/a	n/a
5	NFYB	chr15:76067692-76068299	K562	blood:	n/a	chr15:76067812-76067824 chr15:76067813-76067828 chr15:76067813-76067828
6	TBP	chr15:76067734-76068038	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF7L2	chr15:76067498-76068091	MCF-7	breast:	n/a	chr15:76067794-76067810 chr15:76067795-76067809 chr15:76067798-76067807 chr15:76067794-76067810 chr15:76067795-76067809
8	JUND	chr15:76067713-76067929	K562	blood:	n/a	n/a
9	POLR2A	chr15:76067677-76068643	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr15:76067764-76068104	HepG2	liver:	n/a	n/a
11	TCF7L2	chr15:76067690-76067940	HEK293	kidney:	n/a	chr15:76067794-76067810 chr15:76067795-76067809 chr15:76067798-76067807 chr15:76067794-76067810 chr15:76067795-76067809
12	TAF1	chr15:76067764-76068034	H1-hESC	embryonic stem cell:	n/a	n/a
13	HEY1	chr15:76067674-76068048	HepG2	liver:	n/a	n/a
14	POLR2A	chr15:76067763-76067966	H1-hESC	embryonic stem cell:	n/a	n/a
15	RCOR1	chr15:76067634-76067946	K562	blood:	n/a	n/a
16	MAX	chr15:76067610-76067893	K562	blood:	n/a	n/a
17	TAF1	chr15:76067646-76068134	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr15:76067705-76068023	H1-hESC	embryonic stem cell:	n/a	n/a
19	IRF1	chr15:76067662-76067967	K562	blood:	n/a	chr15:76067687-76067701 chr15:76067793-76067803 chr15:76067708-76067722 chr15:76067791-76067811 chr15:76067793-76067807
20	POLR2A	chr15:76067714-76068042	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF1	chr15:76067678-76067938	K562	blood:	n/a	n/a
22	POLR2A	chr15:76067770-76068044	HepG2	liver:	n/a	n/a
23	POLR2A	chr15:76067764-76068098	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:76066670..76069216-chr15:76135374..76137197,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187812	TF binding region
ENSG00000140367	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10163112	0.83[ASN][1000 genomes]
rs11852472	0.96[EUR][1000 genomes]
rs12101948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594344	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13329104	0.86[ASN][1000 genomes]
rs1823175	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1838939	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1850260	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1850261	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1964473	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1964474	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2002668	0.91[ASN][1000 genomes]
rs2004630	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2004631	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2010392	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2028948	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2405719	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28615348	0.89[ASN][1000 genomes]
rs34243492	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34909574	0.96[EUR][1000 genomes]
rs35237189	0.95[EUR][1000 genomes]
rs35880865	0.97[EUR][1000 genomes]
rs3751536	0.93[EUR][1000 genomes]
rs3845233	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3845234	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3850092	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3861184	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4886742	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56290532	0.84[EUR][1000 genomes]
rs57181727	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60214227	0.87[ASN][1000 genomes]
rs66838310	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
3	nsv904396	chr15:75961518-76071105	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv974599	chr15:76033068-76101142	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76062800-76068000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:76062800-76068400	Weak transcription	Pancreas	Pancrea
3	chr15:76063200-76067800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:76063200-76068000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:76063600-76068000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr15:76063800-76067800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:76063800-76068000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:76063800-76068000	Weak transcription	A549	lung
9	chr15:76063800-76068400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:76064000-76068400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:76064000-76068600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:76064200-76068000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:76064400-76068000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr15:76064400-76068400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:76064600-76068200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:76065400-76068000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:76065600-76067800	Weak transcription	HepG2	liver
18	chr15:76067200-76068200	Weak transcription	Liver	Liver
19	chr15:76067600-76067800	Enhancers	K562	blood
20	chr15:76067600-76068200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:76067600-76068800	Enhancers	Placenta	Placenta

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