Variant report

Variant	rs4953415
Chromosome Location	chr2:46970466-46970467
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	chr2:46969632..46972292-chr2:46976605..46978764,2	K562	blood:
3	chr2:46970114..46972113-chr2:46977401..46980359,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1009230	0.88[ASN][1000 genomes]
rs1009231	0.88[ASN][1000 genomes]
rs10167561	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10168342	0.91[ASN][1000 genomes]
rs11125087	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12475080	0.91[ASN][1000 genomes]
rs1456009	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1471056	0.91[ASN][1000 genomes]
rs1471057	0.82[ASN][1000 genomes]
rs1813505	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1867819	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2045291	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2061182	0.88[ASN][1000 genomes]
rs34505088	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3768720	0.86[ASN][1000 genomes]
rs3814039	0.88[ASN][1000 genomes]
rs4361172	0.90[ASN][1000 genomes]
rs4522653	0.91[ASN][1000 genomes]
rs4953418	0.89[ASN][1000 genomes]
rs6544917	0.81[ASN][1000 genomes]
rs6544918	0.90[ASN][1000 genomes]
rs6544919	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6544921	0.88[ASN][1000 genomes]
rs6705847	0.90[ASN][1000 genomes]
rs6718677	0.89[ASN][1000 genomes]
rs6721122	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6726345	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6727737	0.83[ASN][1000 genomes]
rs6727934	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6728559	0.90[ASN][1000 genomes]
rs6730949	0.90[ASN][1000 genomes]
rs6741706	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6746471	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6748938	0.91[ASN][1000 genomes]
rs7568007	0.80[ASN][1000 genomes]
rs7570376	0.91[ASN][1000 genomes]
rs7580649	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs897528	0.95[ASN][1000 genomes]
rs958726	0.88[ASN][1000 genomes]
rs991742	0.88[ASN][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	chr2:46955200-46974400	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	chr2:46964000-46970600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:46964400-46973200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:46964800-46985800	Weak transcription	Primary B cells from cord blood	blood
22	chr2:46965400-46972400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:46965400-46974200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:46965400-46974400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:46965400-46979200	Weak transcription	Psoas Muscle	Psoas
26	chr2:46965600-46971400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:46965600-46971400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:46965600-46974800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:46965600-46980800	Weak transcription	Fetal Heart	heart
30	chr2:46965800-46972600	Weak transcription	NHLF	lung
31	chr2:46965800-46974400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:46965800-46986800	Weak transcription	Hela-S3	cervix
33	chr2:46966400-46973400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:46966600-46975200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:46967400-46974600	Weak transcription	NH-A	brain
36	chr2:46967600-46970600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:46967600-46974400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:46968000-46974400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:46968000-46974400	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:46968000-46974400	Weak transcription	Pancreas	Pancrea
41	chr2:46968000-46974600	Weak transcription	Gastric	stomach
42	chr2:46968000-46979200	Weak transcription	Left Ventricle	heart
43	chr2:46968000-46980000	Weak transcription	Spleen	Spleen
44	chr2:46968200-46974200	Weak transcription	A549	lung
45	chr2:46968200-46974400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:46968200-46976000	Weak transcription	Stomach Mucosa	stomach
47	chr2:46968200-46976200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:46968800-46970800	Enhancers	HepG2	liver
49	chr2:46969400-46972200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:46969400-46972400	Weak transcription	NHDF-Ad	bronchial

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