Variant report

Variant	rs5994788
Chromosome Location	chr22:34086061-34086062
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17733474	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17733539	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17806754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285897	0.85[ASN][1000 genomes]
rs73170515	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73170522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170527	0.81[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1056845	chr22:34066401-34102719	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34063200-34096000	Weak transcription	GM12878-XiMat	blood
2	chr22:34063600-34093600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr22:34063800-34093200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:34071000-34096400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:34071600-34087400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:34071800-34096600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:34073800-34086200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:34075000-34095400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr22:34075000-34095600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr22:34075000-34096800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:34075000-34100400	Weak transcription	Brain Anterior Caudate	brain
12	chr22:34076200-34106400	Weak transcription	Psoas Muscle	Psoas
13	chr22:34077600-34092800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:34078400-34096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:34080400-34086800	Weak transcription	Right Atrium	heart
16	chr22:34080800-34096600	Weak transcription	Fetal Intestine Small	intestine
17	chr22:34081200-34086800	Weak transcription	Right Ventricle	heart
18	chr22:34081200-34090000	Weak transcription	Aorta	Aorta
19	chr22:34081200-34096200	Weak transcription	Ovary	ovary
20	chr22:34081600-34086400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr22:34081600-34096400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:34081800-34098800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:34082200-34095000	Weak transcription	Gastric	stomach
24	chr22:34082200-34096800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr22:34082400-34086400	Weak transcription	Left Ventricle	heart
26	chr22:34082800-34096200	Weak transcription	Fetal Brain Female	brain
27	chr22:34083800-34086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:34084000-34094600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:34085200-34093600	Weak transcription	Fetal Stomach	stomach
30	chr22:34085600-34087000	Weak transcription	Fetal Heart	heart
31	chr22:34085600-34103600	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:34086000-34086800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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