Variant report

Variant	rs73675450
Chromosome Location	chr8:42921888-42921889
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	chr8:42910507..42914004-chr8:42921809..42923571,3	MCF-7	breast:
2	chr8:42919085..42922343-chr8:42927519..42930325,3	K562	blood:

Variant related genes	Relation type
ENSG00000200731	Chromatin interaction
ENSG00000168522	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs16891648	1.00[AMR][1000 genomes]
rs16891652	1.00[AMR][1000 genomes]
rs16891654	1.00[AMR][1000 genomes]
rs16891682	1.00[AMR][1000 genomes]
rs16891686	1.00[AMR][1000 genomes]
rs16891699	1.00[AMR][1000 genomes]
rs16891701	1.00[AMR][1000 genomes]
rs16891704	1.00[AMR][1000 genomes]
rs55636430	1.00[AMR][1000 genomes]
rs55745135	1.00[AMR][1000 genomes]
rs55870161	1.00[AMR][1000 genomes]
rs55908519	1.00[AMR][1000 genomes]
rs55959405	1.00[AMR][1000 genomes]
rs56313744	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56384848	1.00[AMR][1000 genomes]
rs56789342	1.00[AMR][1000 genomes]
rs57012672	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57180588	1.00[AMR][1000 genomes]
rs57279972	1.00[AMR][1000 genomes]
rs57354259	1.00[AMR][1000 genomes]
rs57713224	1.00[AMR][1000 genomes]
rs57746820	1.00[AMR][1000 genomes]
rs57798571	1.00[AMR][1000 genomes]
rs58729340	1.00[AMR][1000 genomes]
rs59139251	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59320956	1.00[AMR][1000 genomes]
rs60259766	1.00[AMR][1000 genomes]
rs60491458	1.00[AMR][1000 genomes]
rs60748981	1.00[AMR][1000 genomes]
rs60960611	1.00[AMR][1000 genomes]
rs61356971	1.00[AMR][1000 genomes]
rs61468554	1.00[AMR][1000 genomes]
rs73675437	1.00[AMR][1000 genomes]
rs73675439	1.00[AMR][1000 genomes]
rs73675443	1.00[AMR][1000 genomes]
rs73675448	1.00[AMR][1000 genomes]
rs73675449	1.00[AMR][1000 genomes]
rs73675452	1.00[AMR][1000 genomes]
rs73675454	1.00[AMR][1000 genomes]
rs73675457	1.00[AMR][1000 genomes]
rs73675458	1.00[AMR][1000 genomes]
rs73675460	1.00[AMR][1000 genomes]
rs73675461	1.00[AMR][1000 genomes]
rs73675463	1.00[AMR][1000 genomes]
rs73675464	1.00[AMR][1000 genomes]
rs73675466	1.00[AMR][1000 genomes]
rs73675467	1.00[AMR][1000 genomes]
rs73675468	1.00[AMR][1000 genomes]
rs73675469	1.00[AMR][1000 genomes]
rs73675470	1.00[AMR][1000 genomes]
rs73675473	1.00[AMR][1000 genomes]
rs73675475	1.00[AMR][1000 genomes]
rs73675476	1.00[AMR][1000 genomes]
rs73675478	1.00[AMR][1000 genomes]
rs73675493	1.00[AMR][1000 genomes]
rs73675496	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription 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 miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42912800-42924200	Weak transcription	Gastric	stomach
2	chr8:42912800-42924600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:42912800-42936000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:42912800-42936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:42912800-42943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:42912800-42948000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:42913000-42924000	Weak transcription	Esophagus	oesophagus
8	chr8:42913000-42924000	Weak transcription	Pancreas	Pancrea
9	chr8:42913000-42924400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:42913000-42924400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:42913000-42924400	Weak transcription	Spleen	Spleen
12	chr8:42913000-42941200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:42913600-42940600	Weak transcription	Small Intestine	intestine
14	chr8:42914400-42922800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:42914400-42924800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:42914400-42933000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:42914400-42942000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:42914400-42942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:42914400-42947800	Weak transcription	Stomach Mucosa	stomach
20	chr8:42914800-42934800	Weak transcription	Fetal Heart	heart
21	chr8:42914800-42942800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:42915200-42922200	Weak transcription	Brain Substantia Nigra	brain
23	chr8:42915200-42924600	Weak transcription	Brain Angular Gyrus	brain
24	chr8:42915200-42942000	Strong transcription	Fetal Intestine Large	intestine
25	chr8:42915400-42947200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:42915600-42935000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:42915800-42922800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:42916200-42941600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr8:42916200-42942000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:42916400-42941600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:42916400-42942200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:42916800-42923000	Strong transcription	Fetal Lung	lung
33	chr8:42916800-42924400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:42916800-42937000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:42916800-42942000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:42916800-42942800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:42917000-42922800	Strong transcription	Fetal Muscle Leg	muscle
38	chr8:42917000-42942800	Strong transcription	Fetal Stomach	stomach
39	chr8:42917200-42923000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:42917200-42941600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:42917600-42922600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:42917600-42922800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr8:42917600-42922800	Strong transcription	Osteobl	bone
44	chr8:42917600-42926000	Strong transcription	HMEC	breast
45	chr8:42917600-42935800	Strong transcription	Liver	Liver
46	chr8:42917600-42941600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr8:42917600-42941600	Strong transcription	Dnd41	blood
48	chr8:42917600-42941800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:42917600-42941800	Strong transcription	Adipose Nuclei	Adipose
50	chr8:42917600-42942000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links