Variant report

Variant	rs114369275
Chromosome Location	chr17:20030271-20030272
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	STAT3	chr17:20030231-20030367	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-258P	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	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv833396	chr17:20029183-20150808	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19999000-20032800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:20002200-20033400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr17:20025400-20040400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:20025600-20031000	Weak transcription	Left Ventricle	heart
5	chr17:20025600-20034600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:20025800-20031000	Weak transcription	Hela-S3	cervix
7	chr17:20025800-20037600	Weak transcription	Ovary	ovary
8	chr17:20025800-20044400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:20026000-20031000	Weak transcription	Fetal Brain Female	brain
10	chr17:20026000-20031400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr17:20026200-20040000	Weak transcription	Aorta	Aorta
12	chr17:20026200-20049800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr17:20026600-20031200	Weak transcription	Fetal Brain Male	brain
14	chr17:20026600-20033200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr17:20027000-20031000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:20028800-20031600	Enhancers	Brain Angular Gyrus	brain
17	chr17:20029400-20030800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:20029400-20030800	Weak transcription	NHLF	lung
19	chr17:20029400-20033200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr17:20029400-20033600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:20029400-20042400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:20029600-20031000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:20029600-20031200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr17:20029600-20058800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:20029800-20031800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:20029800-20032000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr17:20029800-20040600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr17:20030000-20030800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:20030000-20031000	Weak transcription	Brain Substantia Nigra	brain
30	chr17:20030000-20031200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr17:20030200-20030400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:20030200-20031000	Weak transcription	Brain Hippocampus Middle	brain
33	chr17:20030200-20031200	Weak transcription	Brain Anterior Caudate	brain
34	chr17:20030200-20033000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:20030200-20043800	Weak transcription	Adipose Nuclei	Adipose

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