Variant report

Variant	rs12159644
Chromosome Location	chr22:33776099-33776100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11912015	1.00[AMR][1000 genomes]
rs11912488	1.00[AMR][1000 genomes]
rs58504657	1.00[AMR][1000 genomes]
rs73882246	1.00[AMR][1000 genomes]
rs8140321	1.00[AMR][1000 genomes]
rs9619343	1.00[AMR][1000 genomes]
rs9619344	1.00[AMR][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:56 , 50 per page) page: 1 2

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	chr22:33757800-33777000	Weak transcription	Fetal Stomach	stomach
5	chr22:33757800-33777200	Weak transcription	Left Ventricle	heart
6	chr22:33765800-33777800	Weak transcription	Gastric	stomach
7	chr22:33766800-33786000	Weak transcription	Fetal Lung	lung
8	chr22:33769200-33777800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr22:33769800-33776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:33771800-33776400	Weak transcription	HSMM	muscle
11	chr22:33773000-33778600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:33773200-33777200	Weak transcription	Fetal Intestine Large	intestine
13	chr22:33773400-33776400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr22:33773600-33776200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr22:33773600-33781200	Weak transcription	Primary B cells from cord blood	blood
16	chr22:33773800-33776200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr22:33774000-33777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:33774000-33777200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:33774200-33786200	Weak transcription	Fetal Heart	heart
20	chr22:33774400-33777800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr22:33774600-33776200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:33774800-33776400	Weak transcription	NHDF-Ad	bronchial
23	chr22:33774800-33776800	Weak transcription	Ovary	ovary
24	chr22:33774800-33777000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr22:33774800-33777000	Weak transcription	Aorta	Aorta
26	chr22:33774800-33777400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:33774800-33779800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr22:33775000-33776800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr22:33775000-33776800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:33775000-33776800	Weak transcription	Right Ventricle	heart
31	chr22:33775000-33777000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:33775000-33777800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:33775000-33777800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr22:33775000-33781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:33775000-33789200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr22:33775200-33776800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr22:33775200-33780000	Weak transcription	Colon Smooth Muscle	Colon
38	chr22:33775200-33781600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr22:33775200-33786200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:33775200-33789000	Weak transcription	Adipose Nuclei	Adipose
41	chr22:33775400-33777000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:33775400-33785000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr22:33775600-33778200	Weak transcription	Psoas Muscle	Psoas
44	chr22:33775600-33779800	Enhancers	Liver	Liver
45	chr22:33775600-33800400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr22:33775800-33776200	Enhancers	HepG2	liver
47	chr22:33775800-33776800	ZNF genes & repeats	GM12878-XiMat	blood
48	chr22:33775800-33778000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:33776000-33777000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:33776000-33777200	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links