Variant report

Variant	rs5754699
Chromosome Location	chr22:34218355-34218356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1018788	0.84[YRI][hapmap]
rs12484737	0.90[CEU][hapmap];0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs2013201	0.85[ASN][1000 genomes]
rs2267291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2267292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2413202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2413203	0.85[ASN][1000 genomes]
rs34866182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs418867	0.86[AMR][1000 genomes]
rs5749660	0.81[ASN][1000 genomes]
rs5749661	0.84[ASN][1000 genomes]
rs5749670	0.85[ASN][1000 genomes]
rs5749673	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749677	0.83[CHB][hapmap]
rs5754671	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs5754681	0.85[ASN][1000 genomes]
rs5754687	0.85[YRI][hapmap]
rs5754688	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5754701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5999099	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs5999108	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs5999110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5999113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619918	0.81[ASN][1000 genomes]
rs713840	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7285567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609871	0.85[ASN][1000 genomes]
rs9609872	0.85[ASN][1000 genomes]
rs9609873	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9609874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9941961	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1064781	chr22:34152145-34231792	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv526550	chr22:34204930-34221959	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1056001	chr22:34206144-34221959	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34200600-34234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr22:34208200-34219600	Weak transcription	Aorta	Aorta
3	chr22:34208800-34219600	Weak transcription	Pancreas	Pancrea
4	chr22:34212600-34221600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:34213000-34228000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:34213200-34232200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:34213400-34225800	Weak transcription	Fetal Brain Male	brain
8	chr22:34213600-34221600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:34215200-34225800	Weak transcription	Fetal Stomach	stomach
10	chr22:34216000-34218400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:34216600-34222400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr22:34216800-34219000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr22:34216800-34220800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr22:34216800-34227400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:34217000-34219000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr22:34217000-34219200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:34217000-34219600	Weak transcription	Spleen	Spleen
18	chr22:34217000-34226200	Weak transcription	Brain Hippocampus Middle	brain
19	chr22:34217200-34218400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr22:34217200-34219200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:34217200-34219400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr22:34217200-34219600	Weak transcription	Esophagus	oesophagus
23	chr22:34217200-34219600	Weak transcription	Ovary	ovary
24	chr22:34217400-34218800	Weak transcription	HSMMtube	muscle
25	chr22:34217400-34219400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:34217400-34220800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr22:34217400-34221800	Enhancers	NHDF-Ad	bronchial
28	chr22:34217400-34222400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr22:34217600-34218800	Weak transcription	Gastric	stomach
30	chr22:34217600-34219000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:34217800-34219200	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:34217800-34219200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr22:34217800-34219400	Weak transcription	NHLF	lung
34	chr22:34217800-34220800	Weak transcription	Right Ventricle	heart
35	chr22:34217800-34222600	Enhancers	Psoas Muscle	Psoas
36	chr22:34217800-34222800	Enhancers	Left Ventricle	heart
37	chr22:34218000-34218400	Weak transcription	Fetal Heart	heart
38	chr22:34218000-34218400	Enhancers	NHEK	skin
39	chr22:34218200-34218600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:34218200-34219000	Enhancers	GM12878-XiMat	blood
41	chr22:34218200-34219200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr22:34218200-34219600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr22:34218200-34219600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr22:34218200-34220400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:34218200-34220800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr22:34218200-34221800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr22:34218200-34222000	Enhancers	Right Atrium	heart

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