Variant report

Variant	rs550225908
Chromosome Location	chr17:15602316-15602317
allele	A/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	POLR2A	chr17:15602209-15603952	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:15602233-15603933	GM12892	blood:	n/a	n/a
3	SP1	chr17:15602300-15603342	A549	lung:	n/a	chr17:15603190-15603197
4	ESRRA	chr17:15602304-15603165	GM12878	blood:	n/a	n/a
5	POLR2A	chr17:15602116-15603575	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr17:15602285-15603779	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr17:15602256-15603978	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:15602264-15603315	GM12878	blood:	n/a	n/a
9	POLR2A	chr17:15602158-15603971	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:15602010-15604720	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr17:15602253-15603301	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ZNF286A	TF binding region
ENSG00000187607	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
7	nsv520426	chr17:15554561-15647723	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv518620	chr17:15563393-15608194	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv522564	chr17:15592762-15608194	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv962262	chr17:15601321-15609621	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15601200-15602400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr17:15601400-15602400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr17:15602000-15602400	Enhancers	Primary B cells from cord blood	blood
4	chr17:15602000-15602400	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr17:15602000-15602400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:15602000-15602400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr17:15602000-15602400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:15602000-15602400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:15602000-15602400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr17:15602000-15602400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:15602000-15602400	Enhancers	Fetal Thymus	thymus
12	chr17:15602000-15602400	Flanking Active TSS	GM12878-XiMat	blood
13	chr17:15602000-15602400	Enhancers	Hela-S3	cervix
14	chr17:15602000-15602400	Enhancers	K562	blood
15	chr17:15602000-15602400	Enhancers	NH-A	brain
16	chr17:15602000-15602600	Enhancers	Primary B cells from peripheral blood	blood
17	chr17:15602000-15602600	Flanking Active TSS	Dnd41	blood
18	chr17:15602000-15603400	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr17:15602000-15603400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr17:15602200-15602400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr17:15602200-15602400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr17:15602200-15602400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:15602200-15602400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr17:15602200-15602400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr17:15602200-15602400	Enhancers	Brain Anterior Caudate	brain
26	chr17:15602200-15602400	Flanking Active TSS	HepG2	liver
27	chr17:15602200-15602400	Enhancers	NHDF-Ad	bronchial
28	chr17:15602200-15602400	Enhancers	NHEK	skin
29	chr17:15602200-15602600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:15602200-15603000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:15602200-15603400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr17:15602200-15603400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:15602200-15603400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr17:15602200-15603400	Active TSS	Thymus	Thymus
35	chr17:15602200-15603800	Active TSS	Duodenum Mucosa	Duodenum
36	chr17:15602200-15604000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:15602200-15604000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:15602200-15604000	Active TSS	A549	lung
39	chr17:15602200-15604200	Active TSS	Osteobl	bone
40	chr17:15602200-15604400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:15602200-15604400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:15602200-15604600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr17:15602200-15604600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:15602200-15604600	Active TSS	Brain Germinal Matrix	brain

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