Variant report

Variant	rs738951
Chromosome Location	chr22:34208847-34208848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17309	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2213313	0.85[EUR][1000 genomes]
rs2267296	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4603882	0.86[ASN][1000 genomes]
rs4820116	0.86[EUR][1000 genomes]
rs5749667	0.86[ASN][1000 genomes]
rs5749671	0.85[ASN][1000 genomes]
rs5754683	0.86[ASN][1000 genomes]
rs5754705	0.85[EUR][1000 genomes]
rs5754706	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7289200	0.86[EUR][1000 genomes]
rs9619375	0.84[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34197800-34212200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:34200600-34234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:34204800-34211400	Weak transcription	Brain Germinal Matrix	brain
4	chr22:34204800-34212200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:34205200-34209200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr22:34205800-34209000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr22:34205800-34209600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr22:34206200-34209200	Enhancers	Left Ventricle	heart
9	chr22:34206400-34209000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr22:34206400-34209000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr22:34206400-34209200	Enhancers	Right Ventricle	heart
12	chr22:34207000-34209800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr22:34207200-34209000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:34207200-34209200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:34207200-34209200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr22:34207200-34209400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr22:34207600-34215600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr22:34208000-34209200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:34208200-34209000	Enhancers	Liver	Liver
20	chr22:34208200-34209200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:34208200-34219600	Weak transcription	Aorta	Aorta
22	chr22:34208400-34209000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:34208400-34210200	Weak transcription	Fetal Heart	heart
24	chr22:34208400-34214600	Weak transcription	Ovary	ovary
25	chr22:34208400-34217200	Weak transcription	Fetal Lung	lung
26	chr22:34208600-34210200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr22:34208600-34211600	Weak transcription	Stomach Mucosa	stomach
28	chr22:34208600-34214400	Weak transcription	GM12878-XiMat	blood
29	chr22:34208600-34217200	Weak transcription	Colon Smooth Muscle	Colon
30	chr22:34208600-34217200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr22:34208600-34217400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:34208800-34209400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:34208800-34211600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr22:34208800-34212600	Weak transcription	Fetal Stomach	stomach
35	chr22:34208800-34215800	Weak transcription	Psoas Muscle	Psoas
36	chr22:34208800-34215800	Weak transcription	Right Atrium	heart
37	chr22:34208800-34217200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr22:34208800-34217600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr22:34208800-34219600	Weak transcription	Pancreas	Pancrea

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