Variant report

Variant	rs2576092
Chromosome Location	chr15:45408933-45408934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:45408703-45409183	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr15:45408824-45408957	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF2F1	chr15:45408927-45408957	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr15:45408805-45409129	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZEB1	chr15:45408661-45408951	GM12878	blood:	n/a	chr15:45408759-45408768
6	CTBP2	chr15:45408486-45409537	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr15:45408860-45409010	GM12865	blood:	n/a	n/a
8	CTCF	chr15:45408800-45408950	SAEC	small airway:	n/a	n/a
9	MAX	chr15:45408692-45409191	H1-hESC	embryonic stem cell:	n/a	n/a
10	SUZ12	chr15:45403640-45410696	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr15:45408529-45409639	H1-hESC	embryonic stem cell:	n/a	chr15:45408609-45408623
12	CTCF	chr15:45408843-45408966	NHEK	skin:	n/a	n/a
13	BACH1	chr15:45408630-45409090	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr15:45408678-45409209	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

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:

No data

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

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10851420	0.92[MEX][hapmap]
rs16977681	1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs175088	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1863469	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1961660	0.83[GIH][hapmap];1.00[MEX][hapmap]
rs199138	0.92[MEX][hapmap]
rs2001616	0.89[AMR][1000 genomes]
rs2252371	1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2252479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2576091	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269856	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs269859	0.92[MEX][hapmap]
rs269862	1.00[MEX][hapmap]
rs269868	1.00[MEX][hapmap]
rs4774518	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4774519	1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs61751061	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955152	0.86[AMR][1000 genomes];0.85[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:88 , 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	chr15:45408000-45410200	Bivalent Enhancer	Lung	lung
5	chr15:45408200-45409000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr15:45408200-45410400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:45408400-45409000	Bivalent Enhancer	Primary T cells from cord blood	blood
8	chr15:45408400-45409000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:45408400-45409000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr15:45408400-45409000	Bivalent Enhancer	Spleen	Spleen
11	chr15:45408400-45409200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr15:45408400-45409200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr15:45408400-45409200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
14	chr15:45408400-45410200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr15:45408400-45410600	Bivalent Enhancer	Fetal Brain Male	brain
16	chr15:45408600-45409000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:45408600-45409000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:45408600-45409000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
19	chr15:45408600-45409000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
20	chr15:45408600-45409200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr15:45408600-45409200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
22	chr15:45408600-45409200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:45408600-45409200	Bivalent Enhancer	Esophagus	oesophagus
24	chr15:45408600-45409600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
25	chr15:45408600-45409600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:45408600-45409600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
27	chr15:45408600-45409600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
28	chr15:45408600-45409800	Bivalent Enhancer	Fetal Heart	heart
29	chr15:45408600-45410000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:45408600-45410000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:45408600-45410000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
32	chr15:45408600-45410000	Bivalent Enhancer	Fetal Stomach	stomach
33	chr15:45408600-45410000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr15:45408600-45410200	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr15:45408600-45410400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr15:45408600-45410400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
37	chr15:45408800-45409000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
38	chr15:45408800-45409000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:45408800-45409000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:45408800-45409000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:45408800-45409000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr15:45408800-45409000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:45408800-45409000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:45408800-45409000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr15:45408800-45409000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
46	chr15:45408800-45409000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
47	chr15:45408800-45409000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
48	chr15:45408800-45409000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:45408800-45409000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:45408800-45409000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin

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