Variant report

Variant	rs28715577
Chromosome Location	chr2:46966531-46966532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46965000..46967486-chr2:46976098..46978644,2	K562	blood:
2	chr2:46966037..46968172-chr2:46972151..46974952,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12474054	0.85[ASN][1000 genomes]
rs17035560	0.95[ASN][1000 genomes]
rs17035565	0.87[ASN][1000 genomes]
rs17035570	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17035588	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17039203	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41413046	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41518447	0.82[ASN][1000 genomes]
rs6737848	0.85[ASN][1000 genomes]
rs973491	0.83[ASN][1000 genomes]
rs990289	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:63 , 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	chr2:46948200-46967400	Weak transcription	Esophagus	oesophagus
4	chr2:46948200-46974600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:46948200-46977200	Weak transcription	Aorta	Aorta
6	chr2:46948600-46974400	Weak transcription	Fetal Stomach	stomach
7	chr2:46950800-46975400	Weak transcription	Fetal Lung	lung
8	chr2:46955000-46975400	Weak transcription	Small Intestine	intestine
9	chr2:46955200-46967600	Weak transcription	Thymus	Thymus
10	chr2:46955200-46970400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:46955200-46974400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:46955200-46984800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:46955400-46967600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:46955400-46967800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:46955400-46967800	Weak transcription	Fetal Thymus	thymus
17	chr2:46955400-46974200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:46956000-46975400	Weak transcription	Lung	lung
19	chr2:46956000-46980000	Weak transcription	Right Atrium	heart
20	chr2:46957400-46973200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:46959600-46967000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:46959600-46967200	Weak transcription	Ovary	ovary
23	chr2:46959600-46975000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:46959800-46969000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:46960000-46978800	Weak transcription	Primary T cells from cord blood	blood
26	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:46962000-46982000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:46962200-46968800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:46962600-46967800	Weak transcription	Gastric	stomach
30	chr2:46962600-46969000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:46963400-46967200	Weak transcription	Pancreas	Pancrea
32	chr2:46963600-46967200	Weak transcription	Left Ventricle	heart
33	chr2:46964000-46970600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:46964200-46966600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr2:46964200-46967800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:46964400-46973200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:46964800-46966600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:46964800-46969000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:46964800-46985800	Weak transcription	Primary B cells from cord blood	blood
40	chr2:46965000-46966600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:46965000-46968800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:46965400-46967000	Weak transcription	NH-A	brain
43	chr2:46965400-46967200	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:46965400-46967200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:46965400-46970200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:46965400-46972400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:46965400-46974200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:46965400-46974400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:46965400-46979200	Weak transcription	Psoas Muscle	Psoas
50	chr2:46965600-46969000	Weak transcription	NHDF-Ad	bronchial

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