Variant report

Variant	rs7566758
Chromosome Location	chr2:46948035-46948036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46924560..46926945-chr2:46947357..46950271,2	MCF-7	breast:
2	chr2:46924864..46926962-chr2:46945163..46948583,3	MCF-7	breast:
3	chr2:46946506..46948828-chr2:46997236..46999160,2	K562	blood:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10164807	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10172110	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10189994	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190001	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190187	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11125088	1.00[AMR][1000 genomes]
rs13399271	0.85[AFR][1000 genomes]
rs13399713	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13402553	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13418951	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035402	1.00[MEX][hapmap]
rs28702871	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41409850	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41483445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55817465	0.88[AFR][1000 genomes]
rs6711782	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6714964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6716072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6759784	1.00[AMR][1000 genomes]
rs6760403	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73926574	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73926585	1.00[AMR][1000 genomes]
rs7573534	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9807932	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9808073	1.00[AMR][1000 genomes]
rs9808427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46942800-46948600	Enhancers	NH-A	brain
2	chr2:46944200-46948200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr2:46945200-46948600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:46945400-46950800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:46945400-46952600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:46945400-46953400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:46945800-46948600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:46946000-46948600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:46946200-46948200	Enhancers	NHEK	skin
11	chr2:46946200-46949600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:46946400-46948400	Enhancers	HepG2	liver
13	chr2:46946400-46948600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:46946400-46949000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr2:46946400-46949000	Enhancers	Fetal Heart	heart
16	chr2:46946600-46948200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:46946600-46948200	Enhancers	Fetal Thymus	thymus
18	chr2:46946600-46948200	Enhancers	Right Ventricle	heart
19	chr2:46946600-46948200	Flanking Active TSS	A549	lung
20	chr2:46946600-46948200	Enhancers	HMEC	breast
21	chr2:46946600-46948200	Enhancers	HSMMtube	muscle
22	chr2:46946600-46948400	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:46946600-46948600	Enhancers	Rectal Smooth Muscle	rectum
24	chr2:46946600-46949600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:46946600-46951800	Enhancers	Colon Smooth Muscle	Colon
26	chr2:46946800-46953000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:46947000-46948200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:46947000-46954600	Weak transcription	HUVEC	blood vessel
29	chr2:46947000-46954800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:46947200-46948200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:46947200-46948200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:46947200-46948400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:46947200-46949000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:46947200-46949000	Enhancers	Brain Substantia Nigra	brain
35	chr2:46947400-46948200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:46947400-46948400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:46947400-46948400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:46947400-46948600	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:46947400-46949000	Enhancers	Brain Hippocampus Middle	brain
40	chr2:46947600-46948400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr2:46947600-46948600	Enhancers	Primary T cells from cord blood	blood
42	chr2:46947600-46948800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:46947600-46948800	Enhancers	Brain Germinal Matrix	brain
44	chr2:46947600-46949000	Enhancers	Small Intestine	intestine
45	chr2:46947600-46975600	Weak transcription	HSMM	muscle
46	chr2:46947800-46948200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:46947800-46948200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:46947800-46948200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:46947800-46948200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr2:46947800-46948200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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