Variant report

Variant	rs16992780
Chromosome Location	chr22:34065531-34065532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11912487	1.00[EUR][1000 genomes]
rs11913941	1.00[EUR][1000 genomes]
rs12159488	1.00[EUR][1000 genomes]
rs12168632	1.00[EUR][1000 genomes]
rs16992665	1.00[EUR][1000 genomes]
rs16992700	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16992701	1.00[EUR][1000 genomes]
rs16992721	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16992743	1.00[EUR][1000 genomes]
rs16992749	1.00[EUR][1000 genomes]
rs16992752	1.00[EUR][1000 genomes]
rs16992754	1.00[EUR][1000 genomes]
rs16992756	1.00[EUR][1000 genomes]
rs16992761	1.00[EUR][1000 genomes]
rs16992763	1.00[EUR][1000 genomes]
rs16992782	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28656978	1.00[EUR][1000 genomes]
rs5994783	1.00[EUR][1000 genomes]
rs5999041	1.00[EUR][1000 genomes]
rs7290109	1.00[EUR][1000 genomes]
rs8138772	1.00[EUR][1000 genomes]
rs8139284	1.00[EUR][1000 genomes]
rs9619364	1.00[EUR][1000 genomes]
rs9621736	1.00[EUR][1000 genomes]
rs9621740	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv914988	chr22:33975998-34083987	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	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
14	nsv588935	chr22:34008430-34073758	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv914989	chr22:34011334-34083987	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34053800-34070400	Weak transcription	Lung	lung
2	chr22:34055200-34068200	Weak transcription	Spleen	Spleen
3	chr22:34057600-34066200	Enhancers	Fetal Heart	heart
4	chr22:34062000-34066600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:34062000-34067600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr22:34062200-34066000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:34062200-34066800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr22:34062200-34067600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr22:34062400-34067200	Enhancers	Left Ventricle	heart
10	chr22:34062600-34066400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:34062600-34067400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr22:34062600-34077600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:34063000-34065800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:34063000-34066000	Enhancers	Gastric	stomach
15	chr22:34063200-34065600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:34063200-34066400	Weak transcription	Ovary	ovary
17	chr22:34063200-34067200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:34063200-34096000	Weak transcription	GM12878-XiMat	blood
19	chr22:34063400-34065600	Weak transcription	Colon Smooth Muscle	Colon
20	chr22:34063400-34065800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:34063400-34066000	Enhancers	Brain Germinal Matrix	brain
22	chr22:34063400-34066200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr22:34063400-34066800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr22:34063400-34067400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr22:34063600-34065800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr22:34063600-34072800	Weak transcription	Brain Anterior Caudate	brain
27	chr22:34063600-34093600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr22:34063800-34068400	Weak transcription	Fetal Brain Female	brain
29	chr22:34063800-34093200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:34064000-34065600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:34064400-34080000	Weak transcription	Aorta	Aorta
32	chr22:34064600-34066800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr22:34064800-34065600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr22:34064800-34067600	Enhancers	Right Ventricle	heart
35	chr22:34064800-34070400	Weak transcription	Pancreas	Pancrea
36	chr22:34065000-34066200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr22:34065000-34070400	Weak transcription	Psoas Muscle	Psoas
38	chr22:34065200-34068200	Weak transcription	Right Atrium	heart
39	chr22:34065400-34065600	Enhancers	Fetal Brain Male	brain
40	chr22:34065400-34065800	Enhancers	Adipose Nuclei	Adipose
41	chr22:34065400-34065800	Enhancers	Brain Angular Gyrus	brain
42	chr22:34065400-34066400	Enhancers	Skeletal Muscle Female	skeletal muscle

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