Variant report

Variant	rs6033822
Chromosome Location	chr20:13762418-13762419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:13761126-13762471	HepG2	liver:	n/a	n/a
2	POLR2A	chr20:13762320-13762837	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr20:13762014-13762435	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr20:13762137-13762460	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr20:13762151-13762493	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:13759298..13762711-chr20:13763805..13767036,5	MCF-7	breast:
2	chr20:13762040..13764842-chr20:13764954..13766584,2	MCF-7	breast:
3	chr20:13757853..13760208-chr20:13761731..13763400,2	MCF-7	breast:
4	chr20:13732793..13734372-chr20:13760773..13762474,2	K562	blood:

Variant related genes	Relation type
NDUFAF5	TF binding region
ENSG00000089048	Chromatin interaction
ENSG00000101247	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2094652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2327796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2423754	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs243917	1.00[EUR][1000 genomes]
rs34901599	1.00[AMR][1000 genomes]
rs4239710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4814255	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4814257	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4814259	0.90[AFR][1000 genomes]
rs6042326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042344	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6074639	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6079175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:126 , 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	chr20:13734000-13763200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr20:13736800-13763800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr20:13741800-13763200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr20:13741800-13763800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr20:13742000-13762600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr20:13742200-13763600	Strong transcription	Liver	Liver
8	chr20:13742400-13763800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr20:13743800-13763600	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr20:13744400-13763200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr20:13747200-13764000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr20:13747600-13764400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr20:13747800-13763800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr20:13748000-13763200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr20:13748000-13763800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr20:13748400-13764000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr20:13748600-13763400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr20:13748800-13763800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:13748800-13764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr20:13749000-13764000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:13749000-13764200	Weak transcription	Aorta	Aorta
22	chr20:13749000-13764200	Weak transcription	Colonic Mucosa	Colon
23	chr20:13749000-13765200	Weak transcription	Small Intestine	intestine
24	chr20:13749200-13764200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr20:13749200-13764200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr20:13749800-13764000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:13750400-13764200	Weak transcription	Pancreas	Pancrea
28	chr20:13750400-13764200	Weak transcription	Spleen	Spleen
29	chr20:13750600-13764200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr20:13750600-13764200	Weak transcription	Thymus	Thymus
31	chr20:13750600-13765000	Weak transcription	Gastric	stomach
32	chr20:13751200-13765000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr20:13751400-13764200	Weak transcription	Esophagus	oesophagus
34	chr20:13751600-13764000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr20:13751800-13764400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr20:13752400-13764200	Weak transcription	Colon Smooth Muscle	Colon
37	chr20:13753800-13762600	Strong transcription	Placenta	Placenta
38	chr20:13756200-13764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr20:13756200-13764200	Weak transcription	Hela-S3	cervix
40	chr20:13757800-13763600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr20:13758000-13764400	Weak transcription	HSMMtube	muscle
42	chr20:13758200-13763600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr20:13758200-13764000	Weak transcription	Brain Substantia Nigra	brain
44	chr20:13758200-13764200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr20:13758400-13762800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr20:13758400-13764200	Weak transcription	Brain Angular Gyrus	brain
47	chr20:13758600-13764400	Weak transcription	Fetal Kidney	kidney
48	chr20:13758800-13763800	Strong transcription	A549	lung
49	chr20:13758800-13764000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr20:13758800-13764000	Weak transcription	Fetal Brain Male	brain

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