Variant report

Variant	rs557295992
Chromosome Location	chr17:15612430-15612431
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	CBX3	chr17:15612211-15612593	K562	blood:	n/a	n/a

Variant related genes	Relation type
UBE2SP1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv907705	chr17:15611495-15717546	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15603400-15616400	Weak transcription	Pancreas	Pancrea
2	chr17:15603600-15619200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:15604200-15623800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:15604400-15623800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:15604800-15623400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:15607000-15623400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr17:15608200-15612600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:15608200-15621200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:15608400-15613400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:15608400-15616400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:15608400-15623800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr17:15608400-15623800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:15608600-15613000	ZNF genes & repeats	Liver	Liver
14	chr17:15608600-15618200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr17:15609200-15612600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:15610200-15612600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
17	chr17:15610400-15614600	Weak transcription	HepG2	liver
18	chr17:15610400-15619000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr17:15610600-15612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:15610600-15615000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr17:15611600-15614800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:15611800-15613000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:15612000-15612600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr17:15612000-15614200	Weak transcription	Fetal Stomach	stomach
25	chr17:15612000-15614800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:15612000-15614800	Weak transcription	Aorta	Aorta
27	chr17:15612000-15615600	Weak transcription	Lung	lung
28	chr17:15612000-15617000	Weak transcription	Right Ventricle	heart
29	chr17:15612000-15621200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:15612200-15612600	Strong transcription	HSMM	muscle
31	chr17:15612200-15613800	Strong transcription	Dnd41	blood
32	chr17:15612200-15614200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:15612200-15614200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:15612200-15614800	Weak transcription	Fetal Thymus	thymus
35	chr17:15612200-15614800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:15612200-15617200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr17:15612200-15618800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:15612200-15619200	Weak transcription	Psoas Muscle	Psoas
39	chr17:15612400-15613400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:15612400-15613600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:15612400-15613600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr17:15612400-15613800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:15612400-15613800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:15612400-15613800	Weak transcription	Fetal Brain Female	brain
45	chr17:15612400-15613800	Weak transcription	NH-A	brain
46	chr17:15612400-15614000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:15612400-15614000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:15612400-15614000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr17:15612400-15614000	Weak transcription	Small Intestine	intestine
50	chr17:15612400-15614000	Weak transcription	Hela-S3	cervix

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