Variant report

Variant	rs5999017
Chromosome Location	chr22:33970348-33970349
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1029297	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs1075829	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs130422	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1894448	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1894449	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2051567	0.81[EUR][1000 genomes]
rs2239746	0.81[EUR][1000 genomes]
rs2267233	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2267236	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2267238	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2267239	0.82[EUR][1000 genomes]
rs2267241	0.81[EUR][1000 genomes]
rs2283922	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs2283924	0.81[CEU][hapmap]
rs240591	0.83[CEU][hapmap]
rs240592	0.84[CEU][hapmap]
rs240595	0.83[CEU][hapmap]
rs240596	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs240597	0.84[CEU][hapmap]
rs4239873	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs5749633	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5749634	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5749638	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6518833	0.81[CEU][hapmap]
rs695258	0.81[EUR][1000 genomes]
rs695366	0.81[EUR][1000 genomes]
rs695509	0.82[EUR][1000 genomes]
rs718682	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs73168552	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs738962	0.81[CEU][hapmap]
rs738964	0.81[CEU][hapmap]
rs743731	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9621727	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv1063312	chr22:33963672-33983973	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv588933	chr22:33963790-33978458	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33940800-33970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:33946000-33974600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:33949600-33975400	Weak transcription	Ovary	ovary
4	chr22:33959400-33974800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr22:33960000-33993000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:33965200-33971400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr22:33965200-33976000	Enhancers	Primary B cells from peripheral blood	blood
8	chr22:33965200-34045800	Weak transcription	Pancreas	Pancrea
9	chr22:33965400-33974600	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:33965600-33971200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr22:33965800-33974000	Weak transcription	Stomach Mucosa	stomach
12	chr22:33965800-33975200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr22:33965800-33975400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:33966000-33971200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:33966200-33970400	Weak transcription	Fetal Stomach	stomach
16	chr22:33966200-33970800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr22:33966200-33975400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:33966400-33971000	Weak transcription	Right Ventricle	heart
19	chr22:33966400-33971800	Weak transcription	Psoas Muscle	Psoas
20	chr22:33966400-33973600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:33966400-33975400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr22:33967400-33975000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr22:33967600-33981200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr22:33968000-33970600	Weak transcription	Fetal Heart	heart
25	chr22:33968000-33971800	Weak transcription	Left Ventricle	heart
26	chr22:33968600-33973400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:33968600-33974000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:33969200-33973400	Enhancers	Fetal Intestine Large	intestine
29	chr22:33969200-33974400	Enhancers	Fetal Intestine Small	intestine
30	chr22:33969400-33970400	Enhancers	A549	lung
31	chr22:33969400-33971000	Flanking Active TSS	HepG2	liver
32	chr22:33969400-33972000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr22:33969400-33972400	Active TSS	Fetal Kidney	kidney
34	chr22:33969800-33971400	Weak transcription	GM12878-XiMat	blood
35	chr22:33970000-33971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:33970000-33974000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:33970200-33973200	Weak transcription	Liver	Liver
38	chr22:33970200-33975600	Enhancers	Primary B cells from cord blood	blood

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