Variant report

Variant	rs41489952
Chromosome Location	chr2:46986716-46986717
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17823065	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17823581	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57420323	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58200475	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58509367	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72802462	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72802464	0.85[EUR][1000 genomes]
rs72802465	0.88[EUR][1000 genomes]
rs72802468	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72802469	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72802470	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72802493	0.81[EUR][1000 genomes]
rs72802499	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72802501	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72802502	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72804404	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72804430	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][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	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
6	nsv961404	chr2:46985967-46989160	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	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	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:46965800-46986800	Weak transcription	Hela-S3	cervix
3	chr2:46969400-46988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:46974600-46990000	Weak transcription	Colonic Mucosa	Colon
5	chr2:46975000-46986800	Weak transcription	GM12878-XiMat	blood
6	chr2:46975800-46986800	Weak transcription	Pancreas	Pancrea
7	chr2:46976200-46990400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:46976800-46987200	Weak transcription	Fetal Kidney	kidney
9	chr2:46977000-46988400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:46979600-46989600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:46980200-46988600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:46980400-46986800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:46980400-46988400	Weak transcription	Right Ventricle	heart
14	chr2:46980800-46988800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:46981200-46986800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:46981200-46988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:46981200-46989600	Weak transcription	Small Intestine	intestine
18	chr2:46981200-46991000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
20	chr2:46981600-46988200	Weak transcription	HMEC	breast
21	chr2:46981600-46988400	Weak transcription	NHEK	skin
22	chr2:46981800-46993200	Weak transcription	Fetal Heart	heart
23	chr2:46982200-46988800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:46983200-46990400	Strong transcription	Osteobl	bone
25	chr2:46983400-46987400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:46983600-46988600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:46983600-46989600	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
29	chr2:46984600-46987400	Strong transcription	NHDF-Ad	bronchial
30	chr2:46984800-46987200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:46984800-46987400	Strong transcription	Fetal Intestine Small	intestine
32	chr2:46984800-46987600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:46985000-46987000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:46985000-46987400	Strong transcription	A549	lung
35	chr2:46985000-46990200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:46985200-46987600	Strong transcription	Primary T cells from cord blood	blood
37	chr2:46985200-46988200	Strong transcription	HepG2	liver
38	chr2:46985200-46991400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:46985400-46986800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:46985400-46987200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:46985400-46987200	Strong transcription	Adipose Nuclei	Adipose
42	chr2:46985400-46987400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:46985400-46987400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:46985400-46987400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr2:46985400-46987400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:46985400-46987400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:46985400-46987400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:46985400-46987400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr2:46985400-46987400	Strong transcription	Fetal Muscle Leg	muscle
50	chr2:46985400-46987400	Strong transcription	Lung	lung

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