Variant report

Variant	rs4791675
Chromosome Location	chr17:16539340-16539341
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	chr17:16539012..16541340-chr17:16555846..16558542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197566	Chromatin interaction
ENSG00000264765	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11871369	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239135	0.89[AFR][1000 genomes]
rs4791679	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6502515	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7212915	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7226328	0.92[AFR][1000 genomes]
rs8065506	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072900	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080698	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9889868	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9902518	0.87[EUR][1000 genomes]
rs9903721	0.83[EUR][1000 genomes]
rs9904209	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9907721	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9908721	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9911269	0.89[ASN][1000 genomes]
rs9911518	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9911677	0.91[AFR][1000 genomes]
rs9916706	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916819	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16519800-16540000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:16522000-16540000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:16523000-16540400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:16524600-16539400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:16525800-16539800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:16527200-16542200	Weak transcription	Fetal Heart	heart
7	chr17:16527800-16556000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:16528000-16556000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr17:16530000-16555400	Weak transcription	Small Intestine	intestine
10	chr17:16530200-16540000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:16531200-16556200	Weak transcription	Right Ventricle	heart
12	chr17:16531600-16543800	Weak transcription	Stomach Mucosa	stomach
13	chr17:16531800-16556000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:16532200-16556000	Weak transcription	NHLF	lung
15	chr17:16532400-16556600	Weak transcription	Lung	lung
16	chr17:16533000-16539800	ZNF genes & repeats	A549	lung
17	chr17:16533400-16556000	Weak transcription	HUVEC	blood vessel
18	chr17:16533400-16556400	Weak transcription	Aorta	Aorta
19	chr17:16533800-16539400	Weak transcription	Gastric	stomach
20	chr17:16534000-16539600	Strong transcription	Primary B cells from cord blood	blood
21	chr17:16535000-16556000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:16535000-16556000	Weak transcription	Spleen	Spleen
23	chr17:16535600-16539400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr17:16535600-16540400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr17:16535600-16556000	Weak transcription	Pancreas	Pancrea
26	chr17:16535800-16555400	Weak transcription	NHEK	skin
27	chr17:16536400-16556000	Weak transcription	Esophagus	oesophagus
28	chr17:16536600-16556000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr17:16537000-16542800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr17:16537200-16550400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:16537200-16556000	Weak transcription	Fetal Stomach	stomach
32	chr17:16537400-16547000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr17:16537400-16547200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:16537400-16548200	Weak transcription	Colon Smooth Muscle	Colon
35	chr17:16537400-16555600	Weak transcription	Fetal Brain Female	brain
36	chr17:16537400-16556000	Weak transcription	HMEC	breast
37	chr17:16537600-16555400	Weak transcription	Fetal Brain Male	brain
38	chr17:16537800-16556000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr17:16537800-16556000	Weak transcription	Fetal Thymus	thymus
40	chr17:16538000-16539600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:16538000-16541200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:16538000-16542200	Weak transcription	Adipose Nuclei	Adipose
43	chr17:16538000-16542200	Weak transcription	Brain Germinal Matrix	brain
44	chr17:16538000-16542200	Weak transcription	Fetal Lung	lung
45	chr17:16538000-16542200	Weak transcription	HSMM	muscle
46	chr17:16538000-16548000	Weak transcription	Brain Angular Gyrus	brain
47	chr17:16538000-16550200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr17:16538000-16555400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr17:16538000-16555400	Weak transcription	Brain Anterior Caudate	brain
50	chr17:16538000-16555400	Weak transcription	Brain Substantia Nigra	brain

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