Variant report

Variant	rs59115499
Chromosome Location	chr2:46972710-46972711
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46972029..46974596-chr2:46974621..46976270,2	K562	blood:
2	chr2:46966037..46968172-chr2:46972151..46974952,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs41444751	1.00[AMR][1000 genomes]
rs41468249	1.00[AMR][1000 genomes]
rs41481545	1.00[AMR][1000 genomes]
rs41533648	1.00[AMR][1000 genomes]
rs60426444	1.00[AMR][1000 genomes]
rs6715737	1.00[AMR][1000 genomes]
rs72881382	1.00[AMR][1000 genomes]
rs72881388	1.00[AMR][1000 genomes]
rs72881392	1.00[AMR][1000 genomes]
rs72881398	1.00[AMR][1000 genomes]
rs72882805	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882817	1.00[AMR][1000 genomes]
rs72882819	1.00[AMR][1000 genomes]
rs72882829	1.00[AMR][1000 genomes]
rs7598569	1.00[AMR][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:46947600-46975600	Weak transcription	HSMM	muscle
3	chr2:46948200-46974600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:46948200-46977200	Weak transcription	Aorta	Aorta
5	chr2:46948600-46974400	Weak transcription	Fetal Stomach	stomach
6	chr2:46950800-46975400	Weak transcription	Fetal Lung	lung
7	chr2:46955000-46975400	Weak transcription	Small Intestine	intestine
8	chr2:46955200-46974400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:46955200-46984800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:46955400-46974200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:46956000-46975400	Weak transcription	Lung	lung
13	chr2:46956000-46980000	Weak transcription	Right Atrium	heart
14	chr2:46957400-46973200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:46959600-46975000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:46960000-46978800	Weak transcription	Primary T cells from cord blood	blood
17	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:46962000-46982000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:46964400-46973200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:46964800-46985800	Weak transcription	Primary B cells from cord blood	blood
21	chr2:46965400-46974200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:46965400-46974400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:46965400-46979200	Weak transcription	Psoas Muscle	Psoas
24	chr2:46965600-46974800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:46965600-46980800	Weak transcription	Fetal Heart	heart
26	chr2:46965800-46974400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:46965800-46986800	Weak transcription	Hela-S3	cervix
28	chr2:46966400-46973400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:46966600-46975200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:46967400-46974600	Weak transcription	NH-A	brain
31	chr2:46967600-46974400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:46968000-46974400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:46968000-46974400	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:46968000-46974400	Weak transcription	Pancreas	Pancrea
35	chr2:46968000-46974600	Weak transcription	Gastric	stomach
36	chr2:46968000-46979200	Weak transcription	Left Ventricle	heart
37	chr2:46968000-46980000	Weak transcription	Spleen	Spleen
38	chr2:46968200-46974200	Weak transcription	A549	lung
39	chr2:46968200-46974400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:46968200-46976000	Weak transcription	Stomach Mucosa	stomach
41	chr2:46968200-46976200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:46969400-46974600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:46969400-46976000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:46969400-46988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:46970800-46974400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:46970800-46974400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:46970800-46974400	Weak transcription	Ovary	ovary
48	chr2:46971000-46974400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:46971400-46973400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:46971600-46974600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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