Variant report

Variant	rs41449746
Chromosome Location	chr2:46988509-46988510
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	chr2:46988369..46990736-chr2:46993242..46995389,2	K562	blood:
2	chr2:46924903..46927573-chr2:46987073..46989521,2	K562	blood:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

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]
rs41449044	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46974600-46990000	Weak transcription	Colonic Mucosa	Colon
2	chr2:46976200-46990400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:46979600-46989600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:46980200-46988600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:46980800-46988800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:46981200-46988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:46981200-46989600	Weak transcription	Small Intestine	intestine
8	chr2:46981200-46991000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
10	chr2:46981800-46993200	Weak transcription	Fetal Heart	heart
11	chr2:46982200-46988800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:46983200-46990400	Strong transcription	Osteobl	bone
13	chr2:46983600-46988600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:46983600-46989600	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
16	chr2:46985000-46990200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:46985200-46991400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:46985600-46998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:46986800-46989600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:46987000-46988800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:46987000-46993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:46987200-46988600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:46987200-46988800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:46987200-46988800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:46987200-46989000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:46987200-46989000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:46987200-46989000	Weak transcription	Adipose Nuclei	Adipose
29	chr2:46987200-46989000	Weak transcription	Brain Germinal Matrix	brain
30	chr2:46987200-46989000	Weak transcription	Brain Substantia Nigra	brain
31	chr2:46987200-46989000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:46987200-46989000	Weak transcription	Dnd41	blood
33	chr2:46987200-46990200	Weak transcription	Placenta	Placenta
34	chr2:46987200-46995000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:46987200-46996200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:46987200-46997800	Weak transcription	Liver	Liver
37	chr2:46987400-46989000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:46987400-46989000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:46987400-46989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:46987400-46989000	Weak transcription	Thymus	Thymus
41	chr2:46987400-46989200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:46987400-46989200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:46987400-46989200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:46987400-46989200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:46987400-46989200	Weak transcription	Fetal Thymus	thymus
46	chr2:46987400-46989200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:46987400-46989200	Weak transcription	Spleen	Spleen
48	chr2:46987400-46989200	Weak transcription	GM12878-XiMat	blood
49	chr2:46987400-46989200	Weak transcription	Hela-S3	cervix
50	chr2:46987400-46989200	Weak transcription	HUVEC	blood vessel

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