Variant report

Variant	rs2273479
Chromosome Location	chr20:13463855-13463856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11696301	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11697393	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2423740	1.00[CEU][hapmap]
rs55720631	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6033751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6033770	0.87[YRI][hapmap]
rs6042171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6514377	1.00[EUR][1000 genomes]
rs7269195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73901160	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8120175	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8122011	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585435	chr20:13410638-13582476	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv458871	chr20:13447896-13573415	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv585436	chr20:13447896-13573415	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13395600-13477800	Weak transcription	Gastric	stomach
2	chr20:13430000-13467800	Weak transcription	Ovary	ovary
3	chr20:13430200-13467800	Weak transcription	Pancreas	Pancrea
4	chr20:13442600-13471600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr20:13442800-13467800	Weak transcription	Aorta	Aorta
6	chr20:13445400-13467800	Weak transcription	Fetal Stomach	stomach
7	chr20:13451600-13464200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr20:13454400-13471200	Weak transcription	Small Intestine	intestine
9	chr20:13457000-13471400	Weak transcription	Hela-S3	cervix
10	chr20:13457800-13466000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr20:13458000-13470600	Weak transcription	Colon Smooth Muscle	Colon
12	chr20:13458000-13471600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:13458600-13472600	Weak transcription	Psoas Muscle	Psoas
14	chr20:13458800-13464200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:13459400-13472000	Weak transcription	HSMMtube	muscle
16	chr20:13459600-13469800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr20:13459600-13472600	Weak transcription	NH-A	brain
18	chr20:13459800-13465800	Weak transcription	Spleen	Spleen
19	chr20:13460200-13464000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:13460200-13471600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr20:13460400-13464000	Strong transcription	Liver	Liver
22	chr20:13460400-13464000	Strong transcription	Fetal Lung	lung
23	chr20:13460400-13464200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr20:13460400-13464200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr20:13460400-13464200	Strong transcription	Fetal Thymus	thymus
26	chr20:13460600-13464200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr20:13460600-13464200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr20:13460600-13469800	Weak transcription	Fetal Brain Female	brain
29	chr20:13460600-13472600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr20:13460800-13464000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr20:13460800-13464200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:13460800-13464200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr20:13460800-13464200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr20:13460800-13472000	Weak transcription	Brain Hippocampus Middle	brain
35	chr20:13460800-13472000	Weak transcription	NHEK	skin
36	chr20:13461000-13464000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr20:13461000-13464200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr20:13461000-13465400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr20:13461200-13464000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr20:13461200-13464000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr20:13461200-13464000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr20:13461200-13464200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr20:13461200-13464200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr20:13461400-13464000	Strong transcription	Fetal Kidney	kidney
45	chr20:13461400-13472000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr20:13461800-13464000	Strong transcription	Adipose Nuclei	Adipose
47	chr20:13461800-13464200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr20:13461800-13464200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr20:13461800-13464200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr20:13461800-13472000	Weak transcription	NHDF-Ad	bronchial

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