Variant report

Variant	rs7586082
Chromosome Location	chr2:133403386-133403387
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:133403144..133405262-chr2:133426855..133428605,2	MCF-7	breast:
2	chr2:133397006..133400489-chr2:133401960..133405775,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150551	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10439200	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10928434	1.00[ASN][1000 genomes]
rs11884351	1.00[ASN][1000 genomes]
rs13386133	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13392087	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13431116	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13431416	1.00[ASN][1000 genomes]
rs16839091	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16839330	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16840001	1.00[ASN][1000 genomes]
rs2320152	1.00[JPT][hapmap]
rs56821454	1.00[ASN][1000 genomes]
rs57381356	1.00[ASN][1000 genomes]
rs57457802	1.00[ASN][1000 genomes]
rs57987015	1.00[ASN][1000 genomes]
rs59679606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60981588	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430372	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6719585	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6728913	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73955766	1.00[EUR][1000 genomes]
rs73955769	1.00[ASN][1000 genomes]
rs73955770	1.00[ASN][1000 genomes]
rs73955772	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955775	1.00[ASN][1000 genomes]
rs73955778	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955780	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955781	1.00[ASN][1000 genomes]
rs73955782	1.00[ASN][1000 genomes]
rs73955783	1.00[ASN][1000 genomes]
rs73957619	1.00[ASN][1000 genomes]
rs73957621	1.00[ASN][1000 genomes]
rs7560906	1.00[ASN][1000 genomes]
rs7561232	1.00[ASN][1000 genomes]
rs7562087	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7565263	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7568136	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7570026	1.00[ASN][1000 genomes]
rs7579800	1.00[EUR][1000 genomes]
rs7589749	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7591904	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7595948	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7596374	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7603184	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7606118	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv583155	chr2:133253386-133415170	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133390200-133412600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133390400-133413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:133390400-133423800	Weak transcription	A549	lung
4	chr2:133390800-133405400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:133396000-133403600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:133398600-133406000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:133399000-133403400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:133399000-133408800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:133399800-133410800	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:133400000-133403400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:133400200-133405200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:133400400-133403800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:133401000-133403600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:133401000-133404400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:133401000-133404600	Strong transcription	NH-A	brain
16	chr2:133401400-133403800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:133402000-133403400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:133402000-133405800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:133402200-133404200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:133402200-133404800	Enhancers	Fetal Brain Female	brain
21	chr2:133402200-133406600	Weak transcription	HUVEC	blood vessel
22	chr2:133402600-133403400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:133402600-133403400	Active TSS	Brain Germinal Matrix	brain
24	chr2:133402600-133403400	Strong transcription	Pancreas	Pancrea
25	chr2:133402600-133403800	Enhancers	Fetal Brain Male	brain
26	chr2:133402600-133404000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:133402600-133404000	Weak transcription	Fetal Heart	heart
28	chr2:133402600-133404000	Strong transcription	Fetal Stomach	stomach
29	chr2:133402600-133404200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:133402600-133404600	Strong transcription	Fetal Intestine Small	intestine
31	chr2:133402800-133403400	Strong transcription	Gastric	stomach
32	chr2:133402800-133404000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:133403000-133403600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:133403000-133404600	Enhancers	Primary B cells from peripheral blood	blood
35	chr2:133403000-133409200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:133403000-133419600	Weak transcription	Fetal Kidney	kidney
37	chr2:133403200-133403400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr2:133403200-133403400	Enhancers	Brain Anterior Caudate	brain
39	chr2:133403200-133403400	Enhancers	Esophagus	oesophagus
40	chr2:133403200-133403600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr2:133403200-133403800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:133403200-133404000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:133403200-133404000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:133403200-133404000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:133403200-133404000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:133403200-133404400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:133403200-133404600	Strong transcription	Fetal Intestine Large	intestine
48	chr2:133403200-133404800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:133403200-133404800	Enhancers	Fetal Lung	lung
50	chr2:133403200-133409400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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