Variant report

Variant	rs373733475
Chromosome Location	chr17:15609347-15609348
allele	C/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	E2F4	chr17:15609210-15609538	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
UBE2SP1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	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	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
10	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
11	nsv515999	chr17:15608194-15611495	Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	nsv827899	chr17:15608221-15609388	Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15603400-15609400	Weak transcription	Brain Anterior Caudate	brain
2	chr17:15603400-15609400	Weak transcription	Brain Substantia Nigra	brain
3	chr17:15603400-15609400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:15603400-15609600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:15603400-15609600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:15603400-15609600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:15603400-15609600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:15603400-15609600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:15603400-15609600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr17:15603400-15609600	Weak transcription	Thymus	Thymus
11	chr17:15603400-15609600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr17:15603400-15609800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr17:15603400-15609800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr17:15603400-15610200	Weak transcription	Aorta	Aorta
15	chr17:15603400-15610200	Weak transcription	Left Ventricle	heart
16	chr17:15603400-15610200	Weak transcription	Lung	lung
17	chr17:15603400-15610400	Weak transcription	Gastric	stomach
18	chr17:15603400-15610800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:15603400-15610800	Weak transcription	Adipose Nuclei	Adipose
20	chr17:15603400-15610800	Weak transcription	Psoas Muscle	Psoas
21	chr17:15603400-15610800	Weak transcription	NHLF	lung
22	chr17:15603400-15611000	Weak transcription	Brain Angular Gyrus	brain
23	chr17:15603400-15611000	Weak transcription	Right Ventricle	heart
24	chr17:15603400-15611600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr17:15603400-15612000	Weak transcription	Colon Smooth Muscle	Colon
26	chr17:15603400-15616400	Weak transcription	Pancreas	Pancrea
27	chr17:15603600-15611000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr17:15603600-15619200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr17:15603800-15609400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr17:15604000-15609400	Weak transcription	HepG2	liver
31	chr17:15604000-15609400	Weak transcription	HMEC	breast
32	chr17:15604000-15609600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr17:15604000-15609800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr17:15604000-15610800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr17:15604000-15611800	Weak transcription	K562	blood
36	chr17:15604200-15623800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:15604400-15623800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:15604600-15612400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:15604800-15623400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr17:15605000-15612200	ZNF genes & repeats	Dnd41	blood
41	chr17:15605800-15610800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:15606200-15612200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:15606800-15611600	Weak transcription	Fetal Heart	heart
44	chr17:15607000-15623400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr17:15607600-15609800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:15607600-15610600	ZNF genes & repeats	Brain Germinal Matrix	brain
47	chr17:15607600-15612400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr17:15607600-15612400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr17:15607600-15612400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr17:15607600-15612400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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