Variant report

Variant	rs34395717
Chromosome Location	chr2:178966341-178966342
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	MAX	chr2:178965995-178966415	K562	blood:	n/a	chr2:178966223-178966233
2	MYC	chr2:178966180-178966372	MCF10A-Er-Src	breast:	n/a	chr2:178966223-178966233
3	USF1	chr2:178966083-178966351	H1-hESC	embryonic stem cell:	n/a	chr2:178966222-178966233
4	E2F4	chr2:178966245-178966392	MCF10A-Er-Src	breast:	n/a	n/a
5	USF1	chr2:178966060-178966383	ECC-1	luminal epithelium:	n/a	chr2:178966222-178966233
6	JUND	chr2:178966057-178966381	K562	blood:	n/a	n/a
7	FOS	chr2:178966082-178966395	MCF10A-Er-Src	breast:	n/a	n/a
8	USF2	chr2:178966077-178966380	Hela-S3	cervix:	n/a	chr2:178966222-178966233
9	USF1	chr2:178965965-178966412	K562	blood:	n/a	chr2:178966222-178966233
10	RCOR1	chr2:178966035-178966378	K562	blood:	n/a	n/a
11	USF1	chr2:178966049-178966421	ECC-1	luminal epithelium:	n/a	chr2:178966222-178966233
12	CBX3	chr2:178966009-178966407	K562	blood:	n/a	n/a
13	FOS	chr2:178966105-178966393	MCF10A-Er-Src	breast:	n/a	n/a
14	JUN	chr2:178966096-178966360	K562	blood:	n/a	n/a
15	USF1	chr2:178966019-178966362	H1-hESC	embryonic stem cell:	n/a	chr2:178966222-178966233
16	FOS	chr2:178966218-178966372	MCF10A-Er-Src	breast:	n/a	n/a
17	MAX	chr2:178966064-178966348	K562	blood:	n/a	chr2:178966223-178966233
18	USF1	chr2:178966027-178966496	HCT-116	colon:	n/a	chr2:178966222-178966233
19	USF1	chr2:178966052-178966443	A549	lung:	n/a	chr2:178966222-178966233
20	USF1	chr2:178965993-178966450	K562	blood:	n/a	chr2:178966222-178966233

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178960724..178963095-chr2:178966189..178968403,2	MCF-7	breast:
2	chr2:178965236..178967731-chr2:178970870..178972647,2	K562	blood:

Variant related genes	Relation type
ENSG00000227241	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12989423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989778	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13033194	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419755	1.00[ASN][1000 genomes]
rs334055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334060	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334064	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334065	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334073	0.94[AFR][1000 genomes]
rs334076	1.00[ASN][1000 genomes]
rs334077	1.00[ASN][1000 genomes]
rs34069002	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34702539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34927879	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35620189	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35938761	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737266	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423555	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583739	chr2:178942302-178993562	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv518790	chr2:178963445-179000291	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178965800-178966400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:178966000-178966600	Enhancers	K562	blood
3	chr2:178966000-178966600	Enhancers	NHDF-Ad	bronchial

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