Variant report

Variant	rs576833825
Chromosome Location	chr17:66539017-66539018
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	POLR2A	chr17:66535303-66540040	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:66534614-66539539	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:66538446-66539370	PFSK-1	brain:	n/a	n/a
4	PAX5	chr17:66538890-66539153	GM12878	blood:	n/a	chr17:66539069-66539078 chr17:66539062-66539079 chr17:66539060-66539078
5	POLR2A	chr17:66538577-66539138	HCT-116	colon:	n/a	n/a
6	PAX5	chr17:66538941-66539141	GM12891	blood:	n/a	chr17:66539069-66539078 chr17:66539062-66539079 chr17:66539060-66539078
7	FOSL2	chr17:66535224-66539318	HepG2	liver:	n/a	chr17:66536355-66536369 chr17:66537173-66537182
8	PAX5	chr17:66538823-66539213	GM12878	blood:	n/a	chr17:66539069-66539078 chr17:66539062-66539079 chr17:66539060-66539078
9	POLR2A	chr17:66537968-66539466	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:66528378-66541028	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66509250..66511874-chr17:66538190..66540879,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269657	TF binding region
FAM20A	TF binding region
ENSG00000108946	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833524	chr17:66524030-66705194	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv510723	chr17:66529668-66557425	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv522126	chr17:66538239-66548457	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66520400-66539800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr17:66523200-66542200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:66526000-66539400	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr17:66526600-66539800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:66526800-66540600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:66527600-66554200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:66530800-66539200	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr17:66531200-66552400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr17:66531400-66539200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:66531400-66540000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:66531800-66540000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:66532400-66540200	Strong transcription	Osteobl	bone
13	chr17:66532800-66539600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:66533000-66555200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:66533200-66539200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:66533800-66545400	Weak transcription	Psoas Muscle	Psoas
17	chr17:66533800-66549800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr17:66534000-66541400	Weak transcription	Colon Smooth Muscle	Colon
19	chr17:66534000-66541800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:66534000-66552800	Weak transcription	Fetal Kidney	kidney
21	chr17:66534200-66563200	Weak transcription	Ovary	ovary
22	chr17:66534600-66539800	Weak transcription	Primary B cells from cord blood	blood
23	chr17:66534800-66554200	Weak transcription	NHDF-Ad	bronchial
24	chr17:66535000-66540000	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:66535200-66542800	Weak transcription	Fetal Brain Female	brain
26	chr17:66535400-66540200	Genic enhancers	Liver	Liver
27	chr17:66536200-66539200	Weak transcription	Brain Substantia Nigra	brain
28	chr17:66536200-66540200	Weak transcription	Right Atrium	heart
29	chr17:66536400-66540000	Strong transcription	Fetal Muscle Leg	muscle
30	chr17:66536400-66541400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr17:66536600-66539800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr17:66536600-66542600	Weak transcription	Pancreas	Pancrea
33	chr17:66536800-66539200	Weak transcription	HSMM	muscle
34	chr17:66536800-66539800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr17:66536800-66539800	Weak transcription	Fetal Thymus	thymus
36	chr17:66536800-66540200	Weak transcription	Fetal Lung	lung
37	chr17:66536800-66540200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr17:66536800-66540200	Weak transcription	HSMMtube	muscle
39	chr17:66536800-66540800	Weak transcription	Fetal Heart	heart
40	chr17:66537000-66539200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:66537000-66539400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:66537000-66539800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:66537000-66540200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:66537000-66540200	Strong transcription	Placenta	Placenta
45	chr17:66537000-66543800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr17:66537000-66544400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr17:66537200-66539400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr17:66537200-66540200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr17:66537200-66550600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr17:66537200-66561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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