Variant report

Variant	rs2179057
Chromosome Location	chr22:33775041-33775042
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1033373	1.00[ASN][1000 genomes]
rs1033375	1.00[ASN][1000 genomes]
rs11089623	0.94[ASN][1000 genomes]
rs11705582	0.95[ASN][1000 genomes]
rs12484626	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13347210	1.00[ASN][1000 genomes]
rs16992213	0.99[ASN][1000 genomes]
rs16992256	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1807700	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2009700	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2283898	0.96[EUR][1000 genomes]
rs2283899	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2283901	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2283902	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2413181	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413182	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998905	0.95[ASN][1000 genomes]
rs5998906	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5998917	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60262384	1.00[ASN][1000 genomes]
rs60435865	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62225265	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs715487	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7285067	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7285513	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7290813	0.96[EUR][1000 genomes]
rs8142296	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9607037	1.00[ASN][1000 genomes]
rs9607040	1.00[ASN][1000 genomes]
rs9609775	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9609776	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9609778	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9609779	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1061485	chr22:33670971-33885169	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
9	nsv459876	chr22:33746624-33776430	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv588898	chr22:33746624-33776430	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
12	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
13	esv1835065	chr22:33758698-33798116	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv526030	chr22:33760604-33776430	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1064026	chr22:33767185-33902059	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr22:33734000-33777800	Weak transcription	Pancreas	Pancrea
3	chr22:33738000-33776800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr22:33747400-33775600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:33757800-33777000	Weak transcription	Fetal Stomach	stomach
6	chr22:33757800-33777200	Weak transcription	Left Ventricle	heart
7	chr22:33765800-33777800	Weak transcription	Gastric	stomach
8	chr22:33766800-33786000	Weak transcription	Fetal Lung	lung
9	chr22:33769200-33777800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:33769800-33776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:33771800-33776400	Weak transcription	HSMM	muscle
12	chr22:33773000-33778600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:33773200-33777200	Weak transcription	Fetal Intestine Large	intestine
14	chr22:33773400-33776400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:33773600-33775600	Weak transcription	Liver	Liver
16	chr22:33773600-33776200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr22:33773600-33781200	Weak transcription	Primary B cells from cord blood	blood
18	chr22:33773800-33776200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr22:33774000-33777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr22:33774000-33777200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr22:33774200-33786200	Weak transcription	Fetal Heart	heart
22	chr22:33774400-33775200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
23	chr22:33774400-33777800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr22:33774600-33776000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:33774600-33776200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:33774800-33775200	ZNF genes & repeats	GM12878-XiMat	blood
27	chr22:33774800-33776400	Weak transcription	NHDF-Ad	bronchial
28	chr22:33774800-33776800	Weak transcription	Ovary	ovary
29	chr22:33774800-33777000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr22:33774800-33777000	Weak transcription	Aorta	Aorta
31	chr22:33774800-33777400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:33774800-33779800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr22:33775000-33775400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:33775000-33776800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr22:33775000-33776800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr22:33775000-33776800	Weak transcription	Right Ventricle	heart
37	chr22:33775000-33777000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:33775000-33777800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:33775000-33777800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr22:33775000-33781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr22:33775000-33789200	Weak transcription	Rectal Mucosa Donor 31	rectum

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