Variant report

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:51762579-51763042	K562	blood:	n/a	n/a
2	CTCF	chr19:51762406-51763184	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr19:51762489-51763085	MCF-7	breast:	n/a	n/a
4	RAD21	chr19:51762539-51763145	MCF-7	breast:	n/a	n/a
5	RAD21	chr19:51762575-51763049	A549	lung:	n/a	n/a
6	RAD21	chr19:51762438-51763061	HCT-116	colon:	n/a	n/a
7	CTCF	chr19:51762980-51763130	Caco-2	colon:	n/a	n/a
8	CTCF	chr19:51763020-51763170	GM12870	blood:	n/a	n/a
9	CTCF	chr19:51762508-51763070	MCF-7	breast:	n/a	n/a
10	RAD21	chr19:51762525-51763082	HCT-116	colon:	n/a	n/a
11	CTCF	chr19:51762455-51763088	HCT-116	colon:	n/a	n/a
12	CTCF	chr19:51762443-51763228	A549	lung:	n/a	n/a
13	CTCF	chr19:51762560-51763069	HCT-116	colon:	n/a	n/a
14	SMC3	chr19:51762562-51763410	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr19:51763040-51763190	HMF	breast:	n/a	n/a
16	CTCF	chr19:51762900-51763050	GM12870	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:51661388..51662622-chr19:51761876..51763512,12	MCF-7	breast:
2	chr19:51661431..51662712-chr19:51761692..51763149,12	K562	blood:
3	chr19:51762812..51764543-chr19:51765982..51768235,3	K562	blood:

No data

Variant related genes	Relation type
SIGLECL1	TF binding region
ENSG00000179213	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10404032	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10407368	1.00[EUR][1000 genomes]
rs10407913	1.00[EUR][1000 genomes]
rs10408172	1.00[EUR][1000 genomes]
rs10414234	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10416077	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416406	1.00[EUR][1000 genomes]
rs10418346	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425668	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10426210	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882250	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes]
rs16982575	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16982584	1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2063825	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28625921	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs28765496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4330015	1.00[EUR][1000 genomes]
rs55932809	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56663899	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57490406	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58981829	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509522	1.00[EUR][1000 genomes]
rs7252160	1.00[TSI][hapmap]
rs7252722	1.00[TSI][hapmap]
rs7260005	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304710	1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv518134	chr19:51750238-51765953	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv1060026	chr19:51751123-51773175	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51762600-51772600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:51762800-51767200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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