Variant report

Variant	rs2576091
Chromosome Location	chr15:45408691-45408692
allele	C/G
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	ZNF143	chr15:45408639-45408864	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZEB1	chr15:45408661-45408951	GM12878	blood:	n/a	chr15:45408759-45408768
3	CTBP2	chr15:45408486-45409537	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr15:45403640-45410696	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr15:45408529-45409639	H1-hESC	embryonic stem cell:	n/a	chr15:45408609-45408623
6	BACH1	chr15:45408630-45409090	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr15:45408678-45409209	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45402965..45405384-chr15:45407818..45410560,2	K562	blood:
2	chr15:45407575..45409990-chr15:45413703..45415541,2	K562	blood:
3	chr15:45402172..45404057-chr15:45407808..45410481,2	MCF-7	breast:

Variant related genes	Relation type
DUOX2	TF binding region
ENSG00000140254	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16977681	0.90[ASN][1000 genomes]
rs175088	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1863469	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898298	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2001616	0.89[AMR][1000 genomes]
rs2252371	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2252479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2576092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269856	0.87[EUR][1000 genomes]
rs4774518	0.96[ASN][1000 genomes]
rs4774519	0.98[EUR][1000 genomes]
rs61751061	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955152	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv904185	chr15:45394406-45428390	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv904186	chr15:45394406-45434493	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45406000-45410800	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr15:45406600-45410200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:45406600-45410400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:45406800-45408800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:45407000-45408800	Weak transcription	Pancreas	Pancrea
6	chr15:45408000-45410200	Bivalent Enhancer	Lung	lung
7	chr15:45408200-45408800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr15:45408200-45408800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:45408200-45408800	Bivalent Enhancer	Brain Germinal Matrix	brain
10	chr15:45408200-45409000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr15:45408200-45410400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:45408400-45408800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr15:45408400-45408800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr15:45408400-45408800	Bivalent Enhancer	Primary B cells from cord blood	blood
15	chr15:45408400-45408800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr15:45408400-45408800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
17	chr15:45408400-45408800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:45408400-45408800	Bivalent Enhancer	Right Ventricle	heart
19	chr15:45408400-45409000	Bivalent Enhancer	Primary T cells from cord blood	blood
20	chr15:45408400-45409000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:45408400-45409000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr15:45408400-45409000	Bivalent Enhancer	Spleen	Spleen
23	chr15:45408400-45409200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr15:45408400-45409200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr15:45408400-45409200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
26	chr15:45408400-45410200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr15:45408400-45410600	Bivalent Enhancer	Fetal Brain Male	brain
28	chr15:45408600-45408800	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:45408600-45408800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:45408600-45408800	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr15:45408600-45408800	Bivalent Enhancer	Liver	Liver
32	chr15:45408600-45408800	Bivalent Enhancer	Brain Substantia Nigra	brain
33	chr15:45408600-45408800	Active TSS	Gastric	stomach
34	chr15:45408600-45408800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr15:45408600-45408800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr15:45408600-45408800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr15:45408600-45408800	Bivalent Enhancer	NHEK	skin
38	chr15:45408600-45409000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:45408600-45409000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:45408600-45409000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
41	chr15:45408600-45409000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
42	chr15:45408600-45409200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr15:45408600-45409200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
44	chr15:45408600-45409200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:45408600-45409200	Bivalent Enhancer	Esophagus	oesophagus
46	chr15:45408600-45409600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
47	chr15:45408600-45409600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:45408600-45409600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
49	chr15:45408600-45409600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
50	chr15:45408600-45409800	Bivalent Enhancer	Fetal Heart	heart

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