Variant report

Variant	rs112230628
Chromosome Location	chr17:45247859-45247860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45247336..45250133-chr17:45265157..45267526,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
4	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
5	esv2990	chr17:45245033-45248949	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3584	chr17:45246216-45265642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv962333	chr17:45246234-45248054	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3790	chr17:45247093-45261518	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3344584	chr17:45247298-45258989	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3344853	chr17:45247305-45249388	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3330990	chr17:45247317-45249388	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3382429	chr17:45247350-45249332	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv6495	chr17:45247369-45249359	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3390672	chr17:45247370-45249302	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv6873	chr17:45247370-45266575	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv3503417	chr17:45247389-45249294	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3503418	chr17:45247389-45249294	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3403611	chr17:45247393-45249285	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 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	chr17:45235800-45249200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:45235800-45249200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:45235800-45249200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:45235800-45249200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:45235800-45249200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:45235800-45249200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:45235800-45249200	Weak transcription	Stomach Mucosa	stomach
10	chr17:45235800-45249200	Weak transcription	HSMMtube	muscle
11	chr17:45237400-45249200	Weak transcription	Aorta	Aorta
12	chr17:45237400-45249200	Weak transcription	Small Intestine	intestine
13	chr17:45239000-45249200	Weak transcription	Right Ventricle	heart
14	chr17:45239200-45249200	Weak transcription	Brain Angular Gyrus	brain
15	chr17:45240800-45248400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:45241000-45248400	Strong transcription	Osteobl	bone
17	chr17:45241000-45249200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr17:45241400-45248400	Strong transcription	Fetal Intestine Large	intestine
19	chr17:45241400-45248800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:45241600-45248200	Strong transcription	NHDF-Ad	bronchial
21	chr17:45242200-45249200	Weak transcription	Right Atrium	heart
22	chr17:45242400-45249200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr17:45244200-45248400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:45244200-45248400	Strong transcription	Fetal Stomach	stomach
25	chr17:45244600-45248400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:45245000-45248400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr17:45245000-45248400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:45245000-45248400	Strong transcription	Hela-S3	cervix
29	chr17:45245800-45249200	Weak transcription	Esophagus	oesophagus
30	chr17:45245800-45249200	Weak transcription	Ovary	ovary
31	chr17:45246400-45251600	Weak transcription	Fetal Brain Female	brain
32	chr17:45246600-45251600	Weak transcription	Brain Germinal Matrix	brain
33	chr17:45246800-45249200	Weak transcription	Placenta	Placenta
34	chr17:45246800-45249200	Weak transcription	Lung	lung
35	chr17:45246800-45251200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:45246800-45254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:45247000-45248600	Strong transcription	NHLF	lung
38	chr17:45247000-45249200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:45247200-45248200	Weak transcription	Fetal Intestine Small	intestine
40	chr17:45247200-45248600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:45247400-45248400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr17:45247600-45248000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr17:45247600-45248000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr17:45247600-45248000	Weak transcription	HMEC	breast
45	chr17:45247600-45248400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:45247600-45248800	Weak transcription	Colon Smooth Muscle	Colon
47	chr17:45247600-45249200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr17:45247600-45249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:45247600-45249200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr17:45247600-45249200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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