Variant report

Variant	rs58280055
Chromosome Location	chr17:17966473-17966474
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	chr17:17739170..17740871-chr17:17964937..17967522,2	MCF-7	breast:
2	chr17:17965517..17967965-chr17:17969575..17972463,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57134764	0.86[AFR][1000 genomes]
rs57662319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58970292	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59999521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8066910	0.82[AFR][1000 genomes]
rs8067146	0.86[AFR][1000 genomes]
rs9914362	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 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	chr17:17944000-17974200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17944000-17974200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:17944200-17974400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:17944400-17978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:17945400-17967200	Weak transcription	Small Intestine	intestine
6	chr17:17947000-17974400	Weak transcription	Fetal Heart	heart
7	chr17:17950000-17974400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:17950800-17974000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr17:17953400-17970000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:17954000-17968600	Weak transcription	Psoas Muscle	Psoas
11	chr17:17954200-17974200	Weak transcription	Fetal Brain Male	brain
12	chr17:17954800-17974200	Weak transcription	Stomach Mucosa	stomach
13	chr17:17955600-17969400	Strong transcription	Fetal Muscle Leg	muscle
14	chr17:17955600-17969800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr17:17955600-17970600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr17:17955600-17971200	Strong transcription	Liver	Liver
17	chr17:17956600-17970800	Strong transcription	Fetal Intestine Small	intestine
18	chr17:17956800-17969400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:17956800-17969800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:17956800-17969800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:17957000-17970200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:17957200-17970600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr17:17957200-17970800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr17:17957400-17969400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr17:17960000-17969600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr17:17960400-17968600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:17961400-17966800	Strong transcription	Thymus	Thymus
28	chr17:17961400-17969200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr17:17961400-17969200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:17961400-17969200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:17961400-17969400	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr17:17961400-17970400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:17961400-17970800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr17:17961400-17971200	Strong transcription	Fetal Intestine Large	intestine
35	chr17:17961400-17971200	Strong transcription	Fetal Stomach	stomach
36	chr17:17961600-17970600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr17:17961800-17969800	Strong transcription	Ovary	ovary
38	chr17:17961800-17970000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr17:17961800-17970800	Strong transcription	Placenta	Placenta
40	chr17:17962000-17969800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:17962200-17974200	Weak transcription	Fetal Kidney	kidney
42	chr17:17962600-17974200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:17962800-17967400	Weak transcription	Pancreas	Pancrea
44	chr17:17962800-17967400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr17:17962800-17968200	Weak transcription	A549	lung
46	chr17:17963000-17968400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:17963000-17970800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr17:17963000-17974200	Weak transcription	HUVEC	blood vessel
49	chr17:17963400-17971000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:17963800-17971000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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