Variant report

Variant	rs59790639
Chromosome Location	chr1:10650068-10650069
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	chr1:10645687..10648071-chr1:10649314..10651327,2	MCF-7	breast:
2	chr1:10647759..10650609-chr1:10651674..10653313,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12047856	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12087384	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090714	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567436	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs284269	0.87[EUR][1000 genomes]
rs284273	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs517344	0.85[EUR][1000 genomes]
rs57853007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60101188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60257606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540940	0.99[ASN][1000 genomes]
rs72857041	0.92[EUR][1000 genomes]
rs72857049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1009596	chr1:10626249-10652605	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:10605000-10659000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:10628000-10650200	Weak transcription	Fetal Lung	lung
5	chr1:10628400-10661600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:10628800-10651200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:10629800-10659000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:10631800-10659200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:10635800-10650800	Weak transcription	HSMMtube	muscle
11	chr1:10636000-10650600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:10636200-10655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:10636200-10656000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:10636400-10656200	Weak transcription	NHEK	skin
15	chr1:10636600-10658000	Weak transcription	Spleen	Spleen
16	chr1:10637400-10652200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:10637400-10659000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:10638400-10657400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:10638400-10661600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:10638600-10651600	Weak transcription	Left Ventricle	heart
21	chr1:10638600-10661600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:10639000-10651200	Weak transcription	HSMM	muscle
23	chr1:10639000-10652800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:10639200-10650600	Weak transcription	A549	lung
25	chr1:10639800-10659200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:10640400-10656600	Weak transcription	Placenta	Placenta
27	chr1:10643200-10656200	Weak transcription	Primary T cells from cord blood	blood
28	chr1:10644200-10683400	Weak transcription	K562	blood
29	chr1:10646000-10650600	Weak transcription	HepG2	liver
30	chr1:10646000-10654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:10647400-10654400	Weak transcription	Lung	lung
32	chr1:10648200-10656200	Weak transcription	Gastric	stomach
33	chr1:10649000-10654400	Weak transcription	Ovary	ovary
34	chr1:10649000-10655600	Weak transcription	Fetal Intestine Large	intestine
35	chr1:10649200-10650400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:10649400-10650200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr1:10649400-10657800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:10650000-10650200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:10650000-10652000	Enhancers	Liver	Liver
40	chr1:10650000-10659200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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