Variant report

Variant	rs6728559
Chromosome Location	chr2:46968465-46968466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46933593..46936563-chr2:46968141..46970927,2	K562	blood:
2	chr2:46961327..46962989-chr2:46966754..46968655,2	K562	blood:
3	chr2:46926502..46928230-chr2:46967700..46969222,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1009230	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1009231	0.86[EUR][1000 genomes]
rs10167561	0.90[ASN][1000 genomes]
rs10168342	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11125087	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12475080	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1456009	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1471056	0.83[ASN][1000 genomes]
rs1813505	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1867819	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2045291	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2061182	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3768720	0.86[AFR][1000 genomes]
rs3814039	0.84[EUR][1000 genomes]
rs4361172	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4522653	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4953415	0.90[ASN][1000 genomes]
rs4953418	0.83[AFR][1000 genomes]
rs6544918	0.81[ASN][1000 genomes]
rs6544919	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6544921	0.81[AFR][1000 genomes]
rs6705847	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6718677	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6721122	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6726345	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6727934	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6728881	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6730949	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6741706	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6746471	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6748938	0.83[ASN][1000 genomes]
rs7570376	0.83[ASN][1000 genomes]
rs7580649	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs897528	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs958726	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs991742	0.81[AFR][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	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

No data

Chromatin state (count:61 , 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	chr2:46955200-46970400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:46955200-46974400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:46955200-46984800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:46955400-46974200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:46956000-46975400	Weak transcription	Lung	lung
14	chr2:46956000-46980000	Weak transcription	Right Atrium	heart
15	chr2:46957400-46973200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:46959600-46975000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:46959800-46969000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:46960000-46978800	Weak transcription	Primary T cells from cord blood	blood
19	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:46962000-46982000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:46962200-46968800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:46962600-46969000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:46964000-46970600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:46964400-46973200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:46964800-46969000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:46964800-46985800	Weak transcription	Primary B cells from cord blood	blood
27	chr2:46965000-46968800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:46965400-46970200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:46965400-46972400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:46965400-46974200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:46965400-46974400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:46965400-46979200	Weak transcription	Psoas Muscle	Psoas
33	chr2:46965600-46969000	Weak transcription	NHDF-Ad	bronchial
34	chr2:46965600-46969800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:46965600-46971400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:46965600-46971400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:46965600-46974800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:46965600-46980800	Weak transcription	Fetal Heart	heart
39	chr2:46965800-46972600	Weak transcription	NHLF	lung
40	chr2:46965800-46974400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:46965800-46986800	Weak transcription	Hela-S3	cervix
42	chr2:46966400-46973400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:46966600-46970000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:46966600-46975200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:46967400-46974600	Weak transcription	NH-A	brain
46	chr2:46967600-46970000	Weak transcription	Osteobl	bone
47	chr2:46967600-46970600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:46967600-46974400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:46968000-46970400	Weak transcription	Ovary	ovary
50	chr2:46968000-46974400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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