Variant report

Variant	rs4265445
Chromosome Location	chr1:85321922-85321923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10127586	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10127852	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161469	0.86[EUR][1000 genomes]
rs12133105	1.00[ASN][1000 genomes]
rs13374798	1.00[ASN][1000 genomes]
rs1359607	1.00[ASN][1000 genomes]
rs2389787	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389788	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35604148	1.00[ASN][1000 genomes]
rs4400627	1.00[ASN][1000 genomes]
rs4617419	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72717001	1.00[ASN][1000 genomes]
rs72717002	1.00[ASN][1000 genomes]
rs72718706	1.00[ASN][1000 genomes]
rs72718707	1.00[ASN][1000 genomes]
rs72718708	1.00[ASN][1000 genomes]
rs942683	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942684	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85289400-85330800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:85313000-85332800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:85313600-85330600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:85313600-85357200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:85314000-85330400	Weak transcription	Pancreas	Pancrea
6	chr1:85314600-85328400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:85315200-85322000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:85315600-85336400	Weak transcription	Right Ventricle	heart
9	chr1:85317600-85322200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:85319000-85322000	Enhancers	NHDF-Ad	bronchial
11	chr1:85319400-85322000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:85319400-85322000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:85319400-85322000	Enhancers	HUVEC	blood vessel
14	chr1:85319400-85336400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:85319600-85322000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:85319600-85323200	Enhancers	Fetal Heart	heart
17	chr1:85320000-85322000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:85320400-85322200	Enhancers	Left Ventricle	heart
19	chr1:85320600-85322000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:85320600-85322200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:85320600-85354800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:85320800-85322000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:85320800-85323200	Enhancers	Fetal Brain Male	brain
24	chr1:85320800-85324200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:85320800-85326000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:85320800-85327200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:85321000-85322000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:85321000-85322200	Weak transcription	NHLF	lung
29	chr1:85321000-85324400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:85321000-85324400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:85321000-85327000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:85321000-85342800	Weak transcription	Right Atrium	heart
33	chr1:85321200-85324200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:85321400-85322000	Genic enhancers	HMEC	breast
35	chr1:85321400-85324200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:85321400-85324200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:85321600-85322000	Weak transcription	Thymus	Thymus
38	chr1:85321600-85322400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:85321600-85322400	Enhancers	Fetal Lung	lung
40	chr1:85321600-85327000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:85321800-85322200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:85321800-85322200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:85321800-85322200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:85321800-85323800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:85321800-85324200	Weak transcription	GM12878-XiMat	blood
46	chr1:85321800-85324200	Weak transcription	NHEK	skin
47	chr1:85321800-85332400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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