Variant report

Variant	rs148061519
Chromosome Location	chr2:46986212-46986213
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	chr2:46972600-46986600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:46974600-46990000	Weak transcription	Colonic Mucosa	Colon
6	chr2:46974800-46986600	Weak transcription	Gastric	stomach
7	chr2:46975000-46986800	Weak transcription	GM12878-XiMat	blood
8	chr2:46975600-46986400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:46975800-46986800	Weak transcription	Pancreas	Pancrea
10	chr2:46976200-46990400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:46976400-46986600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:46976800-46986600	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:46976800-46986600	Weak transcription	HUVEC	blood vessel
14	chr2:46976800-46987200	Weak transcription	Fetal Kidney	kidney
15	chr2:46977000-46986600	Weak transcription	Brain Substantia Nigra	brain
16	chr2:46977000-46988400	Weak transcription	Brain Angular Gyrus	brain
17	chr2:46978000-46986400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:46979600-46989600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:46980200-46988600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:46980400-46986800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:46980400-46988400	Weak transcription	Right Ventricle	heart
22	chr2:46980800-46988800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:46981200-46986800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:46981200-46988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:46981200-46989600	Weak transcription	Small Intestine	intestine
26	chr2:46981200-46991000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
28	chr2:46981600-46988200	Weak transcription	HMEC	breast
29	chr2:46981600-46988400	Weak transcription	NHEK	skin
30	chr2:46981800-46993200	Weak transcription	Fetal Heart	heart
31	chr2:46982200-46988800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:46983200-46990400	Strong transcription	Osteobl	bone
33	chr2:46983400-46986600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:46983400-46986600	Weak transcription	Fetal Lung	lung
35	chr2:46983400-46987400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:46983600-46988600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:46983600-46989600	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:46983800-46986400	Weak transcription	HSMMtube	muscle
39	chr2:46984200-46986600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
41	chr2:46984600-46987400	Strong transcription	NHDF-Ad	bronchial
42	chr2:46984800-46987200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr2:46984800-46987400	Strong transcription	Fetal Intestine Small	intestine
44	chr2:46984800-46987600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:46985000-46986600	Weak transcription	Brain Germinal Matrix	brain
46	chr2:46985000-46987000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:46985000-46987400	Strong transcription	A549	lung
48	chr2:46985000-46990200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:46985200-46987600	Strong transcription	Primary T cells from cord blood	blood
50	chr2:46985200-46988200	Strong transcription	HepG2	liver

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