Variant report

Variant	rs72753758
Chromosome Location	chr5:49981300-49981301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:49979801..49982370-chr5:49986606..49988193,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10461602	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12653725	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12654246	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12656298	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12656370	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16877040	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16884855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16884926	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16885251	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4590146	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55868205	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58225490	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753745	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72753773	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72756138	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756146	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72756164	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7705385	0.95[EUR][1000 genomes]
rs7708414	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs965913	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv16870	chr5:49885849-49989415	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv818352	chr5:49958221-50017724	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49964400-49982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:49964400-49983400	Weak transcription	Esophagus	oesophagus
3	chr5:49965800-49982000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:49965800-49983600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:49968800-49990400	Weak transcription	Small Intestine	intestine
6	chr5:49970600-49982600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:49970600-49982600	Weak transcription	Aorta	Aorta
8	chr5:49971600-49982000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:49976200-49985400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:49976600-49983600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:49976600-49983600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:49976800-49982000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:49976800-50000000	Weak transcription	Fetal Stomach	stomach
14	chr5:49977400-49981400	Enhancers	Fetal Heart	heart
15	chr5:49977600-49983600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:49977800-49990600	Weak transcription	Pancreas	Pancrea
17	chr5:49978200-49982000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:49978200-49982000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:49978200-49985200	Weak transcription	Primary T cells from cord blood	blood
20	chr5:49978200-49995000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:49978400-49982000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:49979000-49981400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr5:49979000-49982600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:49979000-49983400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:49979000-49995200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:49979200-49985600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:49979400-49982600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:49979400-50006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:49979800-49983400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:49980400-49981400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:49980400-49981400	Enhancers	Primary B cells from peripheral blood	blood
32	chr5:49980400-49982200	ZNF genes & repeats	Dnd41	blood
33	chr5:49980400-49983400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:49980600-49981400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:49980600-49981400	Enhancers	Right Atrium	heart
36	chr5:49980800-49981400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr5:49980800-49983200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:49980800-49983200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:49980800-49983200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:49980800-49995000	Weak transcription	Thymus	Thymus
41	chr5:49981000-49982600	Weak transcription	Primary B cells from cord blood	blood
42	chr5:49981000-49982600	Weak transcription	Gastric	stomach
43	chr5:49981000-49983400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:49981200-49982600	ZNF genes & repeats	GM12878-XiMat	blood

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