Variant report

Variant	rs182090
Chromosome Location	chr15:45404979-45404980
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	BACH1	chr15:45404699-45405166	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr15:45404577-45407347	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr15:45404209-45405093	H1-neurons	neurons:	n/a	n/a
4	SUZ12	chr15:45403640-45410696	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr15:45404792-45405268	H1-hESC	embryonic stem cell:	n/a	chr15:45405083-45405094
6	POLR2A	chr15:45404261-45405239	H1-neurons	neurons:	n/a	n/a
7	SUZ12	chr15:45404094-45407411	NT2-D1	testis:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45402965..45405384-chr15:45407818..45410560,2	K562	blood:

Variant related genes	Relation type
DUOXA2	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1370114	1.00[AMR][1000 genomes]
rs199137	1.00[AMR][1000 genomes]
rs2412956	1.00[AMR][1000 genomes]
rs2576089	1.00[AMR][1000 genomes]
rs269855	1.00[AMR][1000 genomes]
rs269865	1.00[AMR][1000 genomes]
rs269867	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv3345210	chr15:45402360-45405508	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45403800-45406800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr15:45403800-45407000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
3	chr15:45403800-45407000	Enhancers	Pancreas	Pancrea
4	chr15:45404000-45405000	Bivalent Enhancer	Stomach Mucosa	stomach
5	chr15:45404000-45405200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr15:45404000-45405200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
7	chr15:45404000-45405400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr15:45404000-45405400	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr15:45404000-45405400	Bivalent Enhancer	Lung	lung
10	chr15:45404000-45405600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
11	chr15:45404000-45405600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr15:45404000-45405600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr15:45404000-45405600	Bivalent Enhancer	Fetal Stomach	stomach
14	chr15:45404000-45405600	Bivalent Enhancer	Spleen	Spleen
15	chr15:45404000-45405800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:45404000-45405800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr15:45404000-45405800	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr15:45404000-45406400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr15:45404000-45406800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr15:45404000-45407200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr15:45404200-45405000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr15:45404200-45405200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr15:45404200-45405200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr15:45404200-45405200	Bivalent Enhancer	Placenta	Placenta
25	chr15:45404200-45405600	Bivalent/Poised TSS	Small Intestine	intestine
26	chr15:45404200-45405800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:45404200-45407000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:45404200-45407200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
29	chr15:45404400-45405000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
30	chr15:45404400-45405000	Bivalent Enhancer	Fetal Thymus	thymus
31	chr15:45404400-45405200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
32	chr15:45404400-45405200	Bivalent Enhancer	Colon Smooth Muscle	Colon
33	chr15:45404400-45405400	Bivalent Enhancer	Adipose Nuclei	Adipose
34	chr15:45404400-45405400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
35	chr15:45404400-45405400	Flanking Bivalent TSS/Enh	NHEK	skin
36	chr15:45404400-45405600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:45404400-45405800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:45404400-45405800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
39	chr15:45404400-45406400	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
40	chr15:45404400-45406600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr15:45404400-45407200	Bivalent Enhancer	Fetal Brain Male	brain
42	chr15:45404600-45405000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr15:45404600-45405000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
44	chr15:45404600-45405000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
45	chr15:45404600-45405000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
46	chr15:45404600-45405000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:45404600-45405000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
48	chr15:45404600-45405000	Bivalent Enhancer	Psoas Muscle	Psoas
49	chr15:45404600-45405000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr15:45404600-45405200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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