Variant report

Variant	rs994039
Chromosome Location	chr6:56114997-56114998
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	CEBPB	chr6:56114847-56115049	A549	lung:	n/a	chr6:56114897-56114908

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56109021..56112703-chr6:56113048..56115800,3	MCF-7	breast:

Variant related genes	Relation type
COL21A1	TF binding region
ENSG00000124749	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10498810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10948981	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10948988	0.84[AFR][1000 genomes]
rs12525967	0.82[JPT][hapmap]
rs12526228	0.84[AFR][1000 genomes]
rs12530020	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12665485	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs1925158	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1925160	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1925188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2328693	0.81[ASN][1000 genomes]
rs2397212	0.82[JPT][hapmap]
rs3807013	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3846927	0.81[ASN][1000 genomes]
rs3846928	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3846929	0.81[ASN][1000 genomes]
rs3846931	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs4119562	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4119563	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs4236138	0.81[ASN][1000 genomes]
rs4435945	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4712121	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs4715602	0.82[JPT][hapmap]
rs4715606	0.80[ASN][1000 genomes]
rs60619715	0.84[AFR][1000 genomes]
rs66796842	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72645373	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72645374	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9349809	0.89[ASN][1000 genomes]
rs9370494	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9370495	0.80[JPT][hapmap]
rs9370513	0.81[AFR][1000 genomes]
rs9382598	0.83[JPT][hapmap]
rs9382600	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9382606	0.86[ASN][1000 genomes]
rs9396185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs994040	0.83[JPT][hapmap];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885911	chr6:55789704-56143231	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56112800-56115200	Weak transcription	Lung	lung
2	chr6:56112800-56115200	Weak transcription	Pancreas	Pancrea
3	chr6:56112800-56116600	Weak transcription	Psoas Muscle	Psoas
4	chr6:56113000-56120200	Weak transcription	Aorta	Aorta
5	chr6:56113200-56117000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:56113400-56115000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:56113400-56116600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:56113400-56116800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:56113400-56123800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:56113600-56117200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:56114800-56115400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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