Variant report

Variant	rs66626588
Chromosome Location	chr1:241675945-241675946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241673338..241676303-chr1:241690156..241692248,2	K562	blood:
2	chr1:241673802..241676298-chr1:241681430..241684426,4	MCF-7	breast:
3	chr1:241665518..241668923-chr1:241674331..241676931,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091483	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16841808	0.88[ASN][1000 genomes]
rs2275162	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3765803	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56957678	0.88[ASN][1000 genomes]
rs58766151	0.88[ASN][1000 genomes]
rs59580206	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59625977	0.96[ASN][1000 genomes]
rs60043538	0.96[ASN][1000 genomes]
rs60673334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61737760	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66669018	0.88[ASN][1000 genomes]
rs6678986	0.88[ASN][1000 genomes]
rs6679186	0.88[ASN][1000 genomes]
rs66799800	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6690411	0.88[ASN][1000 genomes]
rs67219057	0.96[ASN][1000 genomes]
rs67528386	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67794990	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67802946	0.82[ASN][1000 genomes]
rs68119865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72766004	0.88[ASN][1000 genomes]
rs73135296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv949442	chr1:241432051-241730054	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv873371	chr1:241667244-241747838	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241655800-241677200	Strong transcription	Liver	Liver
2	chr1:241656800-241677000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:241656800-241678200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:241657000-241676000	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr1:241657000-241676200	Strong transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:241657000-241676400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:241657000-241677000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:241657000-241677200	Strong transcription	Adipose Nuclei	Adipose
9	chr1:241657000-241677400	Strong transcription	Fetal Thymus	thymus
10	chr1:241657000-241680000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:241657200-241677000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr1:241657200-241677200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:241657200-241677400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr1:241657400-241676600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr1:241657400-241676800	Strong transcription	K562	blood
16	chr1:241657400-241678600	Strong transcription	Dnd41	blood
17	chr1:241657400-241680000	Strong transcription	Primary B cells from cord blood	blood
18	chr1:241657600-241676600	Strong transcription	Placenta	Placenta
19	chr1:241657600-241677000	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:241659000-241682000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:241659200-241679800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:241659600-241679000	Strong transcription	HMEC	breast
23	chr1:241661200-241681400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:241662800-241676000	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:241663800-241676000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:241663800-241676000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:241663800-241677000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr1:241664000-241676800	Strong transcription	GM12878-XiMat	blood
29	chr1:241664000-241677200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:241664400-241677000	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:241664800-241676600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:241664800-241677000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:241664800-241680600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:241665000-241676400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:241665000-241676400	Strong transcription	Brain Anterior Caudate	brain
36	chr1:241665000-241677000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:241665000-241677000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:241665000-241677400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:241665000-241677400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:241665000-241679200	Strong transcription	Hela-S3	cervix
41	chr1:241665000-241679600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:241665200-241676000	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr1:241667400-241680800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:241667400-241681800	Weak transcription	Fetal Brain Male	brain
45	chr1:241667600-241681800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:241667800-241682000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:241668000-241679600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:241668000-241680600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:241668000-241682000	Weak transcription	Pancreas	Pancrea
50	chr1:241668000-241682200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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