Variant report

Variant	rs2045291
Chromosome Location	chr2:46976655-46976656
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46965000..46967486-chr2:46976098..46978644,2	K562	blood:
2	chr2:46969632..46972292-chr2:46976605..46978764,2	K562	blood:
3	chr2:46930029..46933528-chr2:46976256..46980348,3	K562	blood:
4	chr2:46976318..46977932-chr2:46979350..46982138,4	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1009230	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1009231	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10167561	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10168342	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11125087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12466948	0.82[ASN][1000 genomes]
rs12475080	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1456009	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1471056	0.90[ASN][1000 genomes]
rs1809216	0.82[ASN][1000 genomes]
rs1813505	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1867819	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2061182	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34505088	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3768720	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3814039	0.88[ASN][1000 genomes]
rs4361172	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4522653	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4953415	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4953418	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6544918	0.88[ASN][1000 genomes]
rs6544919	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6544921	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6705847	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6718677	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6721122	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6726345	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6727934	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6728559	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6730949	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6741706	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6746471	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6748938	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7568007	0.85[ASN][1000 genomes]
rs7570376	0.90[ASN][1000 genomes]
rs7580649	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs897528	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs958726	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs991559	0.82[ASN][1000 genomes]
rs991742	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
5	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
6	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv3459561	chr2:46967674-46979121	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3459562	chr2:46967674-46979121	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv14887	chr2:46967820-46978960	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv2760650	chr2:46970686-46978878	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:46948200-46977200	Weak transcription	Aorta	Aorta
3	chr2:46955200-46984800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:46956000-46980000	Weak transcription	Right Atrium	heart
6	chr2:46960000-46978800	Weak transcription	Primary T cells from cord blood	blood
7	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:46962000-46982000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:46964800-46985800	Weak transcription	Primary B cells from cord blood	blood
10	chr2:46965400-46979200	Weak transcription	Psoas Muscle	Psoas
11	chr2:46965600-46980800	Weak transcription	Fetal Heart	heart
12	chr2:46965800-46986800	Weak transcription	Hela-S3	cervix
13	chr2:46968000-46979200	Weak transcription	Left Ventricle	heart
14	chr2:46968000-46980000	Weak transcription	Spleen	Spleen
15	chr2:46969400-46988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:46972600-46977400	Enhancers	NHLF	lung
17	chr2:46972600-46981000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:46972600-46986600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:46973200-46981400	Enhancers	NHDF-Ad	bronchial
20	chr2:46973400-46985600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:46973600-46980000	Enhancers	Osteobl	bone
22	chr2:46974200-46983000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:46974400-46976800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:46974400-46977000	Enhancers	Colon Smooth Muscle	Colon
25	chr2:46974400-46977200	Enhancers	HMEC	breast
26	chr2:46974400-46977400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:46974400-46977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:46974400-46977400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:46974400-46977400	Enhancers	Fetal Stomach	stomach
30	chr2:46974400-46980000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:46974600-46976800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:46974600-46977000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr2:46974600-46990000	Weak transcription	Colonic Mucosa	Colon
34	chr2:46974800-46977400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:46974800-46980200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:46974800-46985600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:46974800-46986600	Weak transcription	Gastric	stomach
38	chr2:46975000-46979000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:46975000-46979200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:46975000-46979200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:46975000-46980400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:46975000-46985400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:46975000-46986800	Weak transcription	GM12878-XiMat	blood
44	chr2:46975200-46977200	Enhancers	HepG2	liver
45	chr2:46975200-46979000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:46975400-46976800	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:46975400-46976800	Enhancers	Fetal Lung	lung
48	chr2:46975600-46976800	Enhancers	Brain Anterior Caudate	brain
49	chr2:46975600-46976800	Enhancers	Brain Hippocampus Middle	brain
50	chr2:46975600-46976800	Enhancers	Rectal Smooth Muscle	rectum

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