Variant report

Variant	rs12474054
Chromosome Location	chr2:46984830-46984831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17035560	0.90[ASN][1000 genomes]
rs17035565	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17035570	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17035588	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17039203	0.87[ASN][1000 genomes]
rs28715577	0.85[ASN][1000 genomes]
rs41413046	0.87[AMR][1000 genomes]
rs41518447	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6544927	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6737848	0.82[ASN][1000 genomes]
rs7571762	0.80[EUR][1000 genomes]
rs973491	0.83[AMR][1000 genomes]
rs990289	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9967800	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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:113 , 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	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:46964800-46985800	Weak transcription	Primary B cells from cord blood	blood
5	chr2:46965800-46986800	Weak transcription	Hela-S3	cervix
6	chr2:46969400-46988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:46972600-46986600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:46973400-46985600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:46974600-46990000	Weak transcription	Colonic Mucosa	Colon
10	chr2:46974800-46985600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:46974800-46986600	Weak transcription	Gastric	stomach
12	chr2:46975000-46985400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:46975000-46986800	Weak transcription	GM12878-XiMat	blood
14	chr2:46975600-46985400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:46975600-46985400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:46975600-46985400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:46975600-46985400	Weak transcription	Lung	lung
18	chr2:46975600-46986000	Weak transcription	Esophagus	oesophagus
19	chr2:46975600-46986400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:46975800-46986800	Weak transcription	Pancreas	Pancrea
21	chr2:46976200-46990400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:46976400-46985400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:46976400-46986600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:46976600-46985400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:46976600-46986000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:46976600-46986000	Weak transcription	Liver	Liver
27	chr2:46976600-46986000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:46976800-46986000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:46976800-46986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:46976800-46986600	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:46976800-46986600	Weak transcription	HUVEC	blood vessel
32	chr2:46976800-46987200	Weak transcription	Fetal Kidney	kidney
33	chr2:46977000-46985400	Weak transcription	Adipose Nuclei	Adipose
34	chr2:46977000-46985400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:46977000-46986600	Weak transcription	Brain Substantia Nigra	brain
36	chr2:46977000-46988400	Weak transcription	Brain Angular Gyrus	brain
37	chr2:46977400-46985400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:46977400-46985400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:46977400-46985600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:46977400-46986200	Weak transcription	Aorta	Aorta
41	chr2:46978000-46986400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:46979200-46985200	Weak transcription	Primary T cells from cord blood	blood
43	chr2:46979400-46985400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:46979400-46985600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:46979600-46985400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:46979600-46986000	Weak transcription	Fetal Thymus	thymus
47	chr2:46979600-46989600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:46980200-46988600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:46980400-46985200	Weak transcription	HepG2	liver
50	chr2:46980400-46986000	Weak transcription	Spleen	Spleen

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