Variant report

Variant	rs148688644
Chromosome Location	chr17:45236619-45236620
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	chr17:45235017-45237123	K562	blood:	n/a	n/a
2	POLR2A	chr17:45236609-45237392	K562	blood:	n/a	n/a
3	POLR2A	chr17:45236521-45237132	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45235479..45238611-chr17:45239349..45243601,4	K562	blood:
2	chr17:45234199..45236994-chr17:45399820..45401734,2	MCF-7	breast:
3	chr17:45234310..45237087-chr2:133018866..133020562,2	MCF-7	breast:

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000233786	Chromatin interaction
ENSG00000263293	Chromatin interaction
ENSG00000178852	Chromatin interaction
ENSG00000262265	Chromatin interaction

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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1796833	chr17:45212898-45244822	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv960498	chr17:45218734-45237019	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3408242	chr17:45235345-45237851	Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3325368	chr17:45235562-45247410	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3393378	chr17:45235569-45249387	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv5729	chr17:45235587-45249403	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3384942	chr17:45235611-45244927	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3431533	chr17:45235611-45247332	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3364168	chr17:45235631-45247302	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3422702	chr17:45235632-45247304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45234600-45249200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:45234600-45249400	Strong transcription	A549	lung
3	chr17:45235200-45247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:45235400-45240000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:45235800-45236800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:45235800-45236800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr17:45235800-45236800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr17:45235800-45236800	Weak transcription	Brain Angular Gyrus	brain
9	chr17:45235800-45236800	Weak transcription	Colonic Mucosa	Colon
10	chr17:45235800-45236800	Weak transcription	Placenta	Placenta
11	chr17:45235800-45236800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr17:45235800-45236800	Weak transcription	Right Ventricle	heart
13	chr17:45235800-45236800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr17:45235800-45236800	Weak transcription	HMEC	breast
15	chr17:45235800-45236800	Weak transcription	NH-A	brain
16	chr17:45235800-45236800	Weak transcription	NHDF-Ad	bronchial
17	chr17:45235800-45237000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:45235800-45237000	Weak transcription	NHEK	skin
19	chr17:45235800-45237200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:45235800-45237200	Strong transcription	Esophagus	oesophagus
21	chr17:45235800-45237200	Weak transcription	Hela-S3	cervix
22	chr17:45235800-45237400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:45235800-45237400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:45235800-45237400	Strong transcription	Gastric	stomach
25	chr17:45235800-45237400	Strong transcription	Spleen	Spleen
26	chr17:45235800-45237800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:45235800-45237800	Weak transcription	K562	blood
28	chr17:45235800-45238000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr17:45235800-45238000	Strong transcription	Left Ventricle	heart
30	chr17:45235800-45238000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:45235800-45238000	Strong transcription	Thymus	Thymus
32	chr17:45235800-45238000	Weak transcription	HSMM	muscle
33	chr17:45235800-45238200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr17:45235800-45238200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:45235800-45238200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr17:45235800-45238400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr17:45235800-45238400	Strong transcription	Brain Hippocampus Middle	brain
38	chr17:45235800-45238800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr17:45235800-45238800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr17:45235800-45238800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:45235800-45238800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:45235800-45238800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:45235800-45238800	Strong transcription	Adipose Nuclei	Adipose
44	chr17:45235800-45238800	Strong transcription	NHLF	lung
45	chr17:45235800-45239000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:45235800-45239000	Weak transcription	Primary B cells from cord blood	blood
47	chr17:45235800-45239000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr17:45235800-45239000	Strong transcription	Fetal Stomach	stomach
49	chr17:45235800-45239000	Strong transcription	Lung	lung
50	chr17:45235800-45239200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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