Variant report

Variant	rs240607
Chromosome Location	chr22:34032714-34032715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13055437	0.84[ASN][1000 genomes]
rs19801	0.87[ASN][1000 genomes]
rs240328	0.98[EUR][1000 genomes]
rs240330	0.97[EUR][1000 genomes]
rs240332	0.97[EUR][1000 genomes]
rs240333	0.92[EUR][1000 genomes]
rs240335	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs240336	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs240337	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs240338	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs240339	0.90[EUR][1000 genomes]
rs240340	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs240341	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs240342	0.90[EUR][1000 genomes]
rs240343	0.88[EUR][1000 genomes]
rs240344	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs240345	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs240346	0.90[EUR][1000 genomes]
rs240347	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs240349	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs240350	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs240351	0.88[EUR][1000 genomes]
rs240352	0.89[EUR][1000 genomes]
rs240353	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs240354	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs240355	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs240357	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs240358	0.85[EUR][1000 genomes]
rs240598	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs240599	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs240600	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs240601	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs240602	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs240603	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs240604	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs240608	0.85[EUR][1000 genomes]
rs80215	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs80231	0.95[EUR][1000 genomes]
rs9621748	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv914983	chr22:33800119-34035034	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1060283	chr22:33809137-34043739	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv544684	chr22:33809137-34043739	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv588934	chr22:33965639-34035034	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	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
20	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
21	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
22	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33965200-34045800	Weak transcription	Pancreas	Pancrea
2	chr22:33994200-34050600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:33995800-34049800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr22:34003000-34062400	Weak transcription	Gastric	stomach
5	chr22:34007200-34050400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:34008000-34039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:34016200-34033000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr22:34016200-34046000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:34017000-34050400	Weak transcription	Colonic Mucosa	Colon
10	chr22:34017800-34036000	Weak transcription	Brain Hippocampus Middle	brain
11	chr22:34017800-34047800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:34018600-34045600	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:34018800-34033200	Weak transcription	Psoas Muscle	Psoas
14	chr22:34019400-34036800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:34019400-34050600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:34019600-34035400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:34020800-34045000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:34021200-34037000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:34021200-34045600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr22:34021400-34034800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:34021400-34035000	Weak transcription	Liver	Liver
22	chr22:34021400-34038800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr22:34021400-34044600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr22:34021400-34045600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:34021400-34053000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr22:34021600-34033000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:34021600-34033400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:34021600-34034400	Weak transcription	Left Ventricle	heart
29	chr22:34021600-34037000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr22:34021600-34044800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr22:34021600-34045400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:34021800-34033200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:34022200-34041000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:34022400-34033000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr22:34022400-34035000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr22:34022600-34044800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr22:34023000-34035200	Weak transcription	Ovary	ovary
38	chr22:34028200-34048400	Weak transcription	HepG2	liver
39	chr22:34028400-34035400	Weak transcription	Fetal Heart	heart
40	chr22:34030200-34039400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr22:34030400-34035000	Weak transcription	Right Ventricle	heart
42	chr22:34032000-34033200	Weak transcription	Aorta	Aorta
43	chr22:34032000-34033200	Weak transcription	Fetal Stomach	stomach
44	chr22:34032200-34035000	Weak transcription	Fetal Intestine Large	intestine

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