Variant report

Variant	rs34806363
Chromosome Location	chr20:13748041-13748042
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13745856..13749163-chr20:13765224..13767517,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101247	Chromatin interaction
ENSG00000089048	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs13039364	0.81[AFR][1000 genomes]
rs13042637	0.91[ASN][1000 genomes]
rs1547920	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17812441	0.81[AFR][1000 genomes]
rs1999112	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2031933	0.83[ASN][1000 genomes]
rs2209993	0.90[ASN][1000 genomes]
rs2209994	0.90[ASN][1000 genomes]
rs2327797	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2423745	0.90[ASN][1000 genomes]
rs2423749	0.86[ASN][1000 genomes]
rs2423750	0.86[ASN][1000 genomes]
rs2423753	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3180370	0.96[ASN][1000 genomes]
rs34195844	0.81[AFR][1000 genomes]
rs34449907	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35361761	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35632254	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4813142	0.86[ASN][1000 genomes]
rs4814256	0.85[ASN][1000 genomes]
rs4814258	0.83[ASN][1000 genomes]
rs55814427	0.81[AFR][1000 genomes]
rs56043440	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6033816	0.83[ASN][1000 genomes]
rs6033819	0.90[ASN][1000 genomes]
rs6033821	0.95[ASN][1000 genomes]
rs6042351	0.89[ASN][1000 genomes]
rs6042357	0.82[ASN][1000 genomes]
rs6042362	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6074643	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6074644	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6079156	0.81[AFR][1000 genomes]
rs6079158	0.81[AFR][1000 genomes]
rs6079162	0.86[ASN][1000 genomes]
rs6079165	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6079166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6079176	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6079178	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6079181	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6079182	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6110026	0.86[ASN][1000 genomes]
rs6110035	0.90[ASN][1000 genomes]
rs6134968	0.89[ASN][1000 genomes]
rs62209178	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62209207	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68012295	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs754796	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13694600-13764400	Weak transcription	Stomach Mucosa	stomach
2	chr20:13713000-13748600	Weak transcription	Spleen	Spleen
3	chr20:13722000-13748400	Weak transcription	Aorta	Aorta
4	chr20:13722200-13748400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:13730200-13748600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:13731600-13748400	Weak transcription	Esophagus	oesophagus
7	chr20:13734000-13763200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr20:13736800-13763800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:13740800-13757600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr20:13741800-13763200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr20:13741800-13763800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr20:13742000-13757600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr20:13742000-13757800	Strong transcription	NH-A	brain
14	chr20:13742000-13759000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr20:13742000-13762600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr20:13742200-13763600	Strong transcription	Liver	Liver
17	chr20:13742400-13749200	Strong transcription	HSMM	muscle
18	chr20:13742400-13763800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr20:13742800-13752400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr20:13743000-13750400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr20:13743000-13752200	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr20:13743800-13751400	Strong transcription	Placenta	Placenta
23	chr20:13743800-13752000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr20:13743800-13758000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr20:13743800-13758200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr20:13743800-13763600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr20:13744000-13749200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
28	chr20:13744000-13752200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr20:13744000-13758200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr20:13744200-13752600	Strong transcription	Osteobl	bone
31	chr20:13744400-13752800	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr20:13744400-13758600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr20:13744400-13763200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr20:13744600-13749000	Strong transcription	Fetal Brain Male	brain
35	chr20:13744800-13751400	Strong transcription	Left Ventricle	heart
36	chr20:13744800-13753800	Strong transcription	Fetal Thymus	thymus
37	chr20:13745000-13749000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr20:13745000-13749000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr20:13745000-13749000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr20:13745000-13750200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr20:13745000-13750600	Strong transcription	Thymus	Thymus
42	chr20:13745000-13751600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr20:13745000-13751800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr20:13745000-13751800	Strong transcription	Ovary	ovary
45	chr20:13745000-13757600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr20:13745200-13750400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr20:13745200-13751600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr20:13745400-13749200	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr20:13745400-13751600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr20:13745400-13751800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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