Variant report

Variant	rs58066258
Chromosome Location	chr17:17768839-17768840
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	chr17:17765181..17768101-chr17:17768280..17770387,2	MCF-7	breast:
2	chr17:17768738..17771917-chr17:17780143..17782232,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175662	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16960751	0.82[ASN][1000 genomes]
rs3737122	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4925124	1.00[ASN][1000 genomes]
rs57262667	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59334660	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59713490	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61169324	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61657399	0.80[AFR][1000 genomes]
rs7214028	1.00[ASN][1000 genomes]
rs73299869	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73299885	1.00[ASN][1000 genomes]
rs73979209	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078252	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	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
5	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
12	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
13	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
14	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
15	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers 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 miRNA target site	74 gene(s)	inside rSNPs	diseases
16	nsv907760	chr17:17649423-17782404	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
17	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
18	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
19	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
20	nsv907765	chr17:17682484-17802478	Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
21	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17744400-17771400	Weak transcription	Fetal Brain Male	brain
2	chr17:17745200-17770600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:17751600-17771600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:17754000-17772000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr17:17754200-17769400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr17:17754200-17771000	Weak transcription	NH-A	brain
7	chr17:17754400-17769400	Weak transcription	Fetal Brain Female	brain
8	chr17:17754600-17769600	Weak transcription	Thymus	Thymus
9	chr17:17754800-17769400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:17756000-17770800	Weak transcription	Primary B cells from cord blood	blood
11	chr17:17756200-17769600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr17:17756800-17771200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:17756800-17789600	Weak transcription	Small Intestine	intestine
14	chr17:17758600-17769600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:17758800-17769600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:17758800-17780200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:17760000-17775800	Weak transcription	Psoas Muscle	Psoas
18	chr17:17760200-17769400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:17760200-17769600	Weak transcription	NHDF-Ad	bronchial
20	chr17:17761600-17771200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:17761600-17771400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:17763600-17769600	Weak transcription	Pancreas	Pancrea
23	chr17:17763800-17771800	Weak transcription	Fetal Kidney	kidney
24	chr17:17764000-17769400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr17:17764000-17769600	Weak transcription	Brain Substantia Nigra	brain
26	chr17:17764000-17769800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr17:17764000-17771200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:17764000-17771200	Weak transcription	Fetal Heart	heart
29	chr17:17764000-17771400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:17764000-17774000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:17764000-17777800	Weak transcription	Hela-S3	cervix
32	chr17:17764200-17769400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr17:17764200-17769800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:17764200-17774400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:17764200-17803000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr17:17764400-17769600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:17764400-17769600	Weak transcription	Stomach Mucosa	stomach
38	chr17:17764400-17769800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr17:17764400-17769800	Weak transcription	Fetal Lung	lung
40	chr17:17764400-17770400	Strong transcription	Right Ventricle	heart
41	chr17:17764400-17771400	Strong transcription	Placenta	Placenta
42	chr17:17764400-17799600	Weak transcription	A549	lung
43	chr17:17764800-17769400	Weak transcription	NHLF	lung
44	chr17:17765000-17769600	Weak transcription	Gastric	stomach
45	chr17:17765200-17769800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr17:17765200-17770600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr17:17765400-17769400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr17:17765400-17774200	Strong transcription	HSMMtube	muscle
49	chr17:17765800-17769400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr17:17765800-17769600	Weak transcription	Ovary	ovary

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