Variant report

Variant	rs41449044
Chromosome Location	chr2:46986809-46986810
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1446496	0.90[AFR][1000 genomes]
rs41329944	0.89[AFR][1000 genomes]
rs41390544	0.95[AFR][1000 genomes]
rs41449746	1.00[AFR][1000 genomes]
rs6708132	0.95[AFR][1000 genomes]
rs6712025	0.90[AFR][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	chr2:46969400-46988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:46974600-46990000	Weak transcription	Colonic Mucosa	Colon
4	chr2:46976200-46990400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:46976800-46987200	Weak transcription	Fetal Kidney	kidney
6	chr2:46977000-46988400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:46979600-46989600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:46980200-46988600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:46980400-46988400	Weak transcription	Right Ventricle	heart
10	chr2:46980800-46988800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:46981200-46988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:46981200-46989600	Weak transcription	Small Intestine	intestine
13	chr2:46981200-46991000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
15	chr2:46981600-46988200	Weak transcription	HMEC	breast
16	chr2:46981600-46988400	Weak transcription	NHEK	skin
17	chr2:46981800-46993200	Weak transcription	Fetal Heart	heart
18	chr2:46982200-46988800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:46983200-46990400	Strong transcription	Osteobl	bone
20	chr2:46983400-46987400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:46983600-46988600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:46983600-46989600	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
24	chr2:46984600-46987400	Strong transcription	NHDF-Ad	bronchial
25	chr2:46984800-46987200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:46984800-46987400	Strong transcription	Fetal Intestine Small	intestine
27	chr2:46984800-46987600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:46985000-46987000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:46985000-46987400	Strong transcription	A549	lung
30	chr2:46985000-46990200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:46985200-46987600	Strong transcription	Primary T cells from cord blood	blood
32	chr2:46985200-46988200	Strong transcription	HepG2	liver
33	chr2:46985200-46991400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:46985400-46987200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:46985400-46987200	Strong transcription	Adipose Nuclei	Adipose
36	chr2:46985400-46987400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:46985400-46987400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:46985400-46987400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr2:46985400-46987400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:46985400-46987400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:46985400-46987400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:46985400-46987400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr2:46985400-46987400	Strong transcription	Fetal Muscle Leg	muscle
44	chr2:46985400-46987400	Strong transcription	Lung	lung
45	chr2:46985400-46987400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:46985400-46987400	Strong transcription	NHLF	lung
47	chr2:46985400-46987600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:46985400-46987600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:46985400-46987600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:46985400-46987600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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