Variant report

Variant	rs240088
Chromosome Location	chr22:34103214-34103215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs240078	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs240081	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs240086	0.83[YRI][hapmap]
rs240087	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs240089	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs240090	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	nsv917167	chr22:33852676-34137036	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1062832	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv544686	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	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
9	nsv934161	chr22:33979015-34118621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	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
11	nsv1055203	chr22:34098417-34196685	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34076200-34106400	Weak transcription	Psoas Muscle	Psoas
2	chr22:34085600-34103600	Weak transcription	Colon Smooth Muscle	Colon
3	chr22:34087000-34109400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:34091600-34115800	Weak transcription	Pancreas	Pancrea
5	chr22:34092400-34109200	Weak transcription	Fetal Intestine Large	intestine
6	chr22:34097000-34110000	Weak transcription	Ovary	ovary
7	chr22:34097200-34103400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:34097200-34108000	Weak transcription	Fetal Intestine Small	intestine
9	chr22:34097200-34109200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:34097200-34109200	Weak transcription	Fetal Brain Female	brain
11	chr22:34097200-34109400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:34097400-34107400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:34097600-34110200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr22:34097600-34114600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:34097800-34105400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:34098200-34110600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:34098600-34106000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:34100400-34109000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:34100600-34108200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr22:34100800-34110000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr22:34101000-34104200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:34101000-34104200	Enhancers	Fetal Heart	heart
23	chr22:34101200-34103400	Weak transcription	Brain Anterior Caudate	brain
24	chr22:34101200-34108800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:34101200-34109600	Weak transcription	Fetal Stomach	stomach
26	chr22:34101200-34110000	Weak transcription	Aorta	Aorta
27	chr22:34102400-34103400	Weak transcription	Left Ventricle	heart
28	chr22:34102400-34105200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:34102400-34106200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr22:34102400-34106400	Weak transcription	Brain Angular Gyrus	brain
31	chr22:34102600-34105000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:34103000-34106200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr22:34103200-34103400	Enhancers	GM12878-XiMat	blood
34	chr22:34103200-34103600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr22:34103200-34103800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:34103200-34104200	Enhancers	Right Ventricle	heart
37	chr22:34103200-34106400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr22:34103200-34110600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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