Variant report

Variant	rs5994799
Chromosome Location	chr22:34200272-34200273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1013337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10427812	0.96[AFR][1000 genomes]
rs12157658	0.87[AMR][1000 genomes]
rs12170901	1.00[EUR][1000 genomes]
rs16993014	0.85[AMR][1000 genomes]
rs16993101	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28714114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4525791	0.85[AMR][1000 genomes]
rs59015613	0.85[AMR][1000 genomes]
rs59594190	0.85[AMR][1000 genomes]
rs5994792	1.00[EUR][1000 genomes]
rs5999077	1.00[EUR][1000 genomes]
rs5999094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999104	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999111	0.91[AFR][1000 genomes]
rs5999112	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60848515	0.85[AMR][1000 genomes]
rs61124356	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61180141	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7285798	1.00[EUR][1000 genomes]
rs7286692	1.00[EUR][1000 genomes]
rs7292917	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402841	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73406608	0.85[AMR][1000 genomes]
rs73406626	0.85[AMR][1000 genomes]
rs8135517	0.85[AMR][1000 genomes]
rs8137559	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621759	1.00[EUR][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	esv2758542	chr22:34169795-34203479	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2758833	chr22:34169795-34203479	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	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
16	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34177000-34204600	Weak transcription	Gastric	stomach
2	chr22:34186000-34202400	Weak transcription	Fetal Intestine Small	intestine
3	chr22:34187800-34204400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:34193600-34208200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:34197600-34207600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:34197800-34212200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:34198000-34201600	Enhancers	Fetal Heart	heart
8	chr22:34198000-34202000	Enhancers	Colon Smooth Muscle	Colon
9	chr22:34198200-34200800	Enhancers	Rectal Smooth Muscle	rectum
10	chr22:34198200-34201600	Enhancers	Right Ventricle	heart
11	chr22:34198200-34203200	Enhancers	Left Ventricle	heart
12	chr22:34198400-34202000	Weak transcription	Small Intestine	intestine
13	chr22:34198800-34200600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:34199000-34201400	Enhancers	Fetal Stomach	stomach
15	chr22:34199000-34202400	Weak transcription	Lung	lung
16	chr22:34199000-34203200	Enhancers	Ovary	ovary
17	chr22:34199000-34206200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:34199200-34202200	Weak transcription	Spleen	Spleen
19	chr22:34199600-34200600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:34199600-34201600	Enhancers	Psoas Muscle	Psoas
21	chr22:34199800-34200600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr22:34199800-34200600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:34199800-34200600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:34199800-34200600	Enhancers	NHDF-Ad	bronchial
25	chr22:34199800-34202200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr22:34199800-34203000	Weak transcription	Osteobl	bone
27	chr22:34199800-34203800	Weak transcription	NH-A	brain
28	chr22:34199800-34204000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:34199800-34208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:34200000-34200400	Weak transcription	Right Atrium	heart
31	chr22:34200000-34200600	Enhancers	NHLF	lung
32	chr22:34200000-34201600	Weak transcription	Aorta	Aorta
33	chr22:34200000-34202000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr22:34200000-34202000	Enhancers	Stomach Smooth Muscle	stomach
35	chr22:34200000-34202200	Weak transcription	HSMM	muscle
36	chr22:34200000-34203000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:34200000-34203200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:34200200-34200400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr22:34200200-34200800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr22:34200200-34200800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr22:34200200-34201400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr22:34200200-34202000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr22:34200200-34202000	Weak transcription	Liver	Liver
44	chr22:34200200-34203000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr22:34200200-34203000	Weak transcription	HSMMtube	muscle
46	chr22:34200200-34203200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr22:34200200-34207000	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links