Variant report

Variant	rs16992223
Chromosome Location	chr22:33778225-33778226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33770626..33773440-chr22:33777171..33779247,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11912366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11913691	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12628963	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16992225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16992261	1.00[CEU][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5998907	1.00[CEU][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7286572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291320	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137418	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8140239	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8141762	1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
10	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
11	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
12	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
13	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 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	chr22:33766800-33786000	Weak transcription	Fetal Lung	lung
3	chr22:33773000-33778600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:33773600-33781200	Weak transcription	Primary B cells from cord blood	blood
5	chr22:33774200-33786200	Weak transcription	Fetal Heart	heart
6	chr22:33774800-33779800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:33775000-33781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:33775000-33789200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:33775200-33780000	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:33775200-33781600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:33775200-33786200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:33775200-33789000	Weak transcription	Adipose Nuclei	Adipose
13	chr22:33775400-33785000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr22:33775600-33779800	Enhancers	Liver	Liver
15	chr22:33775600-33800400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:33776000-33778400	Enhancers	HMEC	breast
17	chr22:33776000-33780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:33776000-33781200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:33776000-33781600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr22:33776000-33784800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:33776200-33780200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:33776200-33781000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr22:33776200-33782200	Weak transcription	HepG2	liver
24	chr22:33776200-33789200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr22:33776400-33778600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr22:33776400-33778600	Enhancers	HSMM	muscle
27	chr22:33776400-33779800	Weak transcription	Spleen	Spleen
28	chr22:33776600-33778400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr22:33776600-33779400	Weak transcription	Colonic Mucosa	Colon
30	chr22:33776600-33779800	Weak transcription	Brain Hippocampus Middle	brain
31	chr22:33776800-33778600	Strong transcription	GM12878-XiMat	blood
32	chr22:33776800-33780200	Weak transcription	Brain Substantia Nigra	brain
33	chr22:33776800-33780400	Strong transcription	Right Ventricle	heart
34	chr22:33776800-33780600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr22:33776800-33780600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr22:33776800-33780600	Strong transcription	Ovary	ovary
37	chr22:33776800-33781200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr22:33776800-33781200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr22:33777000-33780000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr22:33777000-33780600	Strong transcription	Aorta	Aorta
41	chr22:33777000-33780800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:33777000-33781000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:33777000-33781000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:33777000-33781200	Strong transcription	Fetal Stomach	stomach
45	chr22:33777200-33778600	Enhancers	HSMMtube	muscle
46	chr22:33777200-33779200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr22:33777200-33779600	Weak transcription	Fetal Brain Female	brain
48	chr22:33777200-33780000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr22:33777200-33780600	Strong transcription	Left Ventricle	heart
50	chr22:33777200-33780800	Strong transcription	Fetal Intestine Large	intestine

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