Variant report

Variant	rs3768720
Chromosome Location	chr2:46987300-46987301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46924903..46927573-chr2:46987073..46989521,2	K562	blood:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1009230	0.81[ASN][1000 genomes]
rs1009231	0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs10167561	0.85[ASN][1000 genomes]
rs10168342	0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11125087	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12466948	0.83[ASN][1000 genomes]
rs12475080	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1456009	0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1471056	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1809216	0.83[ASN][1000 genomes]
rs1813505	0.83[ASN][1000 genomes]
rs1867819	0.81[MEX][hapmap];0.81[ASN][1000 genomes]
rs2045291	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3738890	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3814039	0.81[ASN][1000 genomes]
rs4361172	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4522653	0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4953415	0.86[ASN][1000 genomes]
rs4953418	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6544918	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6544919	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6544921	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6705847	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6718677	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6721122	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6726345	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6727934	0.90[AFR][1000 genomes]
rs6728559	0.86[AFR][1000 genomes]
rs6730949	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6741706	0.85[ASN][1000 genomes]
rs6746471	0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6748938	0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7568007	0.84[ASN][1000 genomes]
rs7570376	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7580649	0.84[ASN][1000 genomes]
rs897528	0.88[MEX][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs958726	0.81[ASN][1000 genomes]
rs991559	0.83[ASN][1000 genomes]
rs991742	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][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:112 , 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	chr2:46977000-46988400	Weak transcription	Brain Angular Gyrus	brain
6	chr2:46979600-46989600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:46980200-46988600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:46980400-46988400	Weak transcription	Right Ventricle	heart
9	chr2:46980800-46988800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:46981200-46988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:46981200-46989600	Weak transcription	Small Intestine	intestine
12	chr2:46981200-46991000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
14	chr2:46981600-46988200	Weak transcription	HMEC	breast
15	chr2:46981600-46988400	Weak transcription	NHEK	skin
16	chr2:46981800-46993200	Weak transcription	Fetal Heart	heart
17	chr2:46982200-46988800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:46983200-46990400	Strong transcription	Osteobl	bone
19	chr2:46983400-46987400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:46983600-46988600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:46983600-46989600	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
23	chr2:46984600-46987400	Strong transcription	NHDF-Ad	bronchial
24	chr2:46984800-46987400	Strong transcription	Fetal Intestine Small	intestine
25	chr2:46984800-46987600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:46985000-46987400	Strong transcription	A549	lung
27	chr2:46985000-46990200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:46985200-46987600	Strong transcription	Primary T cells from cord blood	blood
29	chr2:46985200-46988200	Strong transcription	HepG2	liver
30	chr2:46985200-46991400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:46985400-46987400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:46985400-46987400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:46985400-46987400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:46985400-46987400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:46985400-46987400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:46985400-46987400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:46985400-46987400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:46985400-46987400	Strong transcription	Fetal Muscle Leg	muscle
39	chr2:46985400-46987400	Strong transcription	Lung	lung
40	chr2:46985400-46987400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:46985400-46987400	Strong transcription	NHLF	lung
42	chr2:46985400-46987600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:46985400-46987600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:46985400-46987600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:46985400-46987600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:46985400-46987600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:46985400-46987600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:46985400-46987600	Strong transcription	Fetal Intestine Large	intestine
49	chr2:46985400-46987800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr2:46985400-46987800	Strong transcription	NH-A	brain

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