Variant report

Variant	rs5994783
Chromosome Location	chr22:34046209-34046210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

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]
rs12171212	0.81[AMR][1000 genomes]
rs16992665	1.00[EUR][1000 genomes]
rs16992700	1.00[EUR][1000 genomes]
rs16992701	1.00[EUR][1000 genomes]
rs16992721	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	1.00[EUR][1000 genomes]
rs240603	0.82[YRI][hapmap]
rs28656978	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999041	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7290109	0.97[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8138772	0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8139284	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619364	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621736	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621740	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621741	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1065417	chr22:33823850-34053325	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv933309	chr22:33825232-34053000	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	nsv914987	chr22:33920421-34047427	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33994200-34050600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33995800-34049800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:34003000-34062400	Weak transcription	Gastric	stomach
4	chr22:34007200-34050400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:34017000-34050400	Weak transcription	Colonic Mucosa	Colon
6	chr22:34017800-34047800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:34019400-34050600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:34021400-34053000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr22:34028200-34048400	Weak transcription	HepG2	liver
10	chr22:34033400-34049800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:34036600-34048800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:34036800-34055000	Weak transcription	Brain Anterior Caudate	brain
13	chr22:34037400-34049800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr22:34040200-34056200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:34042200-34047400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:34042200-34048400	Weak transcription	Stomach Mucosa	stomach
17	chr22:34043000-34054800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr22:34043400-34050600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:34043800-34048800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr22:34044200-34046600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:34044200-34048400	Weak transcription	Fetal Intestine Small	intestine
22	chr22:34044400-34062200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr22:34044600-34046800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:34044600-34047000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr22:34044800-34046400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:34044800-34046400	Strong transcription	Fetal Lung	lung
27	chr22:34044800-34046600	Strong transcription	Ovary	ovary
28	chr22:34044800-34046800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr22:34045000-34046400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:34045000-34046600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr22:34045000-34046800	Genic enhancers	Left Ventricle	heart
32	chr22:34045200-34046400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr22:34045200-34048400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr22:34045200-34048600	Weak transcription	Fetal Heart	heart
35	chr22:34045200-34049000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr22:34045200-34053000	Weak transcription	Liver	Liver
37	chr22:34045400-34046400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:34045400-34046600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:34045600-34046400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:34045600-34046400	Strong transcription	Fetal Muscle Leg	muscle
41	chr22:34045600-34046400	Strong transcription	Right Ventricle	heart
42	chr22:34045600-34046600	Strong transcription	Colon Smooth Muscle	Colon
43	chr22:34045600-34046600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr22:34045600-34046800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:34045600-34046800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr22:34045800-34046600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr22:34045800-34046600	Strong transcription	Pancreas	Pancrea
48	chr22:34045800-34046800	Enhancers	Adipose Nuclei	Adipose
49	chr22:34045800-34047200	Weak transcription	Brain Hippocampus Middle	brain
50	chr22:34045800-34049600	Weak transcription	Psoas Muscle	Psoas

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