Variant report

Variant	rs73615080
Chromosome Location	chr16:75679025-75679026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75678298..75679777-chr16:75797733..75798745,12	MCF-7	breast:
2	chr16:75656896..75658895-chr16:75677338..75680056,2	K562	blood:
3	chr16:75678229..75679256-chr16:75797523..75798736,4	MCF-7	breast:
4	chr16:75677843..75679921-chr16:75690407..75692993,2	K562	blood:
5	chr16:75653702..75657026-chr16:75677562..75680173,3	MCF-7	breast:
6	chr16:75653410..75664044-chr16:75674901..75683254,27	MCF-7	breast:
7	chr16:75676829..75679257-chr16:75786783..75789607,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065457	Chromatin interaction
ENSG00000065427	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55907643	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56029288	0.84[AFR][1000 genomes]
rs56146953	1.00[AMR][1000 genomes]
rs56235797	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58718680	1.00[AMR][1000 genomes]
rs59487462	0.86[AFR][1000 genomes]
rs59619831	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59634477	1.00[AMR][1000 genomes]
rs60545964	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60713528	0.93[AFR][1000 genomes]
rs60768865	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61675014	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7191923	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192136	1.00[AMR][1000 genomes]
rs73613298	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615046	0.82[AFR][1000 genomes]
rs73615053	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615054	0.82[AFR][1000 genomes]
rs73615069	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615207	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615239	1.00[AMR][1000 genomes]
rs73615244	1.00[AMR][1000 genomes]
rs73615275	1.00[AMR][1000 genomes]
rs8047796	0.84[AFR][1000 genomes]
rs8058139	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75658400-75679200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr16:75658400-75679800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:75658400-75679800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr16:75658800-75679800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr16:75659200-75680000	Strong transcription	Fetal Stomach	stomach
6	chr16:75659200-75680000	Strong transcription	A549	lung
7	chr16:75659200-75680600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:75659400-75679600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:75659400-75680000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr16:75659600-75679200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr16:75659600-75679400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:75659600-75679600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:75659600-75679600	Strong transcription	Placenta	Placenta
14	chr16:75659600-75679600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:75659600-75679800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr16:75659600-75679800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:75659800-75679400	Strong transcription	HSMM	muscle
18	chr16:75659800-75679600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:75659800-75679600	Strong transcription	Osteobl	bone
20	chr16:75660000-75679600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr16:75663200-75679200	Strong transcription	Fetal Thymus	thymus
22	chr16:75664200-75679600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:75664200-75680200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:75669800-75680600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr16:75674400-75679600	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr16:75675000-75680200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:75675600-75679400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:75675600-75680200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:75675600-75680200	Weak transcription	Colonic Mucosa	Colon
30	chr16:75675600-75680200	Weak transcription	Ovary	ovary
31	chr16:75675600-75680600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr16:75675600-75680600	Weak transcription	Aorta	Aorta
33	chr16:75675800-75679400	Weak transcription	Gastric	stomach
34	chr16:75675800-75680400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr16:75676000-75679600	Weak transcription	Lung	lung
36	chr16:75676000-75680200	Weak transcription	Esophagus	oesophagus
37	chr16:75676200-75679200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr16:75676400-75679400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:75676600-75679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:75676600-75679400	Weak transcription	Pancreas	Pancrea
41	chr16:75676800-75679200	Weak transcription	Left Ventricle	heart
42	chr16:75676800-75680200	Weak transcription	Thymus	Thymus
43	chr16:75677200-75680200	Weak transcription	NHLF	lung
44	chr16:75677400-75680600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr16:75677600-75679400	Strong transcription	Fetal Lung	lung
46	chr16:75677600-75679600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr16:75677600-75679600	Strong transcription	Rectal Smooth Muscle	rectum
48	chr16:75677800-75679400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr16:75677800-75679400	Genic enhancers	Fetal Brain Female	brain
50	chr16:75677800-75679800	Strong transcription	H9 Cell Line	embryonic stem cell

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