Variant report

Variant	rs2117455
Chromosome Location	chr13:110443894-110443895
allele	G/T
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	RAD21	chr13:110443197-110444086	Hela-S3	cervix:	n/a	chr13:110443856-110443875
2	RAD21	chr13:110443587-110444029	IMR90	lung:	n/a	chr13:110443856-110443875
3	POLR2A	chr13:110443873-110443898	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr13:110443800-110443950	HepG2	liver:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
5	MXI1	chr13:110443210-110443977	Hela-S3	cervix:	n/a	n/a
6	MYC	chr13:110443657-110443902	MCF10A-Er-Src	breast:	n/a	n/a
7	RAD21	chr13:110443128-110444236	SK-N-SH	brain:	n/a	chr13:110443856-110443875
8	ZKSCAN1	chr13:110443353-110444053	Hela-S3	cervix:	n/a	chr13:110443770-110443783
9	CTCF	chr13:110443658-110444096	K562	blood:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
10	CTCF	chr13:110443840-110443990	GM12867	blood:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
11	RFX5	chr13:110443153-110444053	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr13:110443738-110443995	Hela-S3	cervix:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
13	CTCF	chr13:110443780-110443930	HEEpiC	esophagus:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
14	CTCF	chr13:110443763-110443984	A549	lung:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
15	CTCF	chr13:110443840-110443990	GM12870	blood:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
16	YY1	chr13:110443680-110443958	SK-N-SH_RA	brain:	n/a	n/a
17	POLR2A	chr13:110443386-110444047	K562	blood:	n/a	n/a
18	MAX	chr13:110443513-110443928	K562	blood:	n/a	n/a
19	SMC3	chr13:110443673-110444025	GM12878	blood:	n/a	chr13:110443860-110443874
20	CTCF	chr13:110443800-110443950	GM12865	blood:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
21	MAZ	chr13:110443340-110444034	K562	blood:	n/a	n/a
22	SMC3	chr13:110443114-110444200	SK-N-SH	brain:	n/a	chr13:110443860-110443874
23	CTCF	chr13:110443658-110444015	A549	lung:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
24	RAD21	chr13:110443466-110444124	HCT-116	colon:	n/a	chr13:110443856-110443875
25	CTCF	chr13:110443700-110443983	SK-N-SH_RA	brain:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
26	RAD21	chr13:110443724-110443953	K562	blood:	n/a	chr13:110443856-110443875
27	ARID3A	chr13:110443363-110444054	K562	blood:	n/a	n/a
28	CTCF	chr13:110443800-110443950	HMEC	breast:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
29	CTCF	chr13:110443780-110443930	BE2_C	brain:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
30	KAP1	chr13:110443202-110444035	HEK293	kidney:	n/a	n/a
31	CTCF	chr13:110443780-110443930	AG04449	skin:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
32	CTCF	chr13:110443746-110443933	SK-N-SH_RA	brain:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
33	CTCF	chr13:110443840-110443990	HCM	heart:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
34	MAZ	chr13:110443300-110443955	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr13:110443780-110443930	HA-sp	spinal cord:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
36	CTCF	chr13:110443780-110443930	RPTEC	kidney:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
37	SIN3AK20	chr13:110443673-110443934	PFSK-1	brain:	n/a	n/a
38	MAX	chr13:110443505-110443966	K562	blood:	n/a	n/a
39	MAFF	chr13:110443322-110444056	K562	blood:	n/a	n/a
40	CTCF	chr13:110443800-110443950	GM12868	blood:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
41	CTCF	chr13:110443760-110443910	WERI-Rb-1	eye:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
42	CEBPB	chr13:110443153-110444063	Hela-S3	cervix:	n/a	chr13:110443334-110443345
43	CTCF	chr13:110443780-110443930	HepG2	liver:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
44	CTCF	chr13:110443820-110443970	AG04449	skin:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
45	ZMIZ1	chr13:110443535-110444034	K562	blood:	n/a	n/a
46	CTCF	chr13:110443739-110443991	MCF-7	breast:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
47	BHLHE40	chr13:110443585-110444009	K562	blood:	n/a	n/a
48	CTCF	chr13:110443800-110443950	Hela-S3	cervix:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
49	CTCF	chr13:110443820-110443970	HRPEpiC	eye:	n/a	chr13:110443858-110443876 chr13:110443853-110443874
50	CTCF	chr13:110443760-110443910	AoAF	blood vessel:	n/a	chr13:110443858-110443876 chr13:110443853-110443874

No.	Distal block	Cell Line	Cell type
1	chr13:110347663..110350324-chr13:110443673..110445306,2	K562	blood:
2	chr13:110437931..110439923-chr13:110442337..110443965,2	MCF-7	breast:
3	chr13:109797385..109798328-chr13:110443580..110444081,2	MCF-7	breast:
4	chr13:110443809..110446667-chr13:110447479..110449756,2	K562	blood:

Variant related genes	Relation type
IRS2	TF binding region
ENSG00000185950	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1078514	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1414316	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805097	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966662	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1967911	0.81[EUR][1000 genomes]
rs35612086	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36092351	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4547213	0.81[EUR][1000 genomes]
rs4771648	0.93[EUR][1000 genomes]
rs4771649	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892670	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9521508	0.81[EUR][1000 genomes]
rs9521510	0.93[EUR][1000 genomes]
rs9521517	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521518	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521520	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1047427	chr13:110412864-110446417	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv826793	chr13:110423187-110448628	Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv826794	chr13:110424916-110448628	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
9	nsv826795	chr13:110425465-110448628	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
10	esv1795443	chr13:110435953-110453607	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110440400-110445000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:110440400-110446200	Weak transcription	NHEK	skin
3	chr13:110440400-110446600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:110440400-110447200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:110441200-110444000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:110441600-110444000	Enhancers	HSMM	muscle
7	chr13:110441800-110444200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:110443000-110444000	Enhancers	HMEC	breast
9	chr13:110443200-110444000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:110443200-110444400	Enhancers	Primary hematopoietic stem cells	blood
11	chr13:110443400-110444000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:110443400-110444000	Enhancers	Primary T cells from cord blood	blood
13	chr13:110443400-110444000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:110443400-110444000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:110443600-110444000	Flanking Active TSS	Liver	Liver
16	chr13:110443600-110444000	Flanking Active TSS	K562	blood
17	chr13:110443600-110444000	Enhancers	NH-A	brain
18	chr13:110443800-110444000	Bivalent Enhancer	Primary B cells from cord blood	blood
19	chr13:110443800-110444000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr13:110443800-110444200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr13:110443800-110444200	Enhancers	A549	lung
22	chr13:110443800-110444400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:110443800-110445000	Enhancers	Dnd41	blood
24	chr13:110443800-110446200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:110443800-110446200	Weak transcription	Placenta	Placenta
26	chr13:110443800-110446400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr13:110443800-110446400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:110443800-110446400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:110443800-110446400	Weak transcription	Esophagus	oesophagus
30	chr13:110443800-110446400	Weak transcription	Pancreas	Pancrea
31	chr13:110443800-110447400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr13:110443800-110447400	Weak transcription	Psoas Muscle	Psoas

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