Variant report

Variant	rs5998993
Chromosome Location	chr22:33920601-33920602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10428061	1.00[ASN][1000 genomes]
rs11912942	1.00[ASN][1000 genomes]
rs12157578	1.00[ASN][1000 genomes]
rs12158120	1.00[CEU][hapmap]
rs12158851	1.00[ASN][1000 genomes]
rs12160180	1.00[CEU][hapmap];0.87[YRI][hapmap]
rs16992399	1.00[CEU][hapmap]
rs56033146	1.00[ASN][1000 genomes]
rs57779654	1.00[ASN][1000 genomes]
rs58141020	1.00[ASN][1000 genomes]
rs5994755	1.00[ASN][1000 genomes]
rs5994756	1.00[ASN][1000 genomes]
rs5994759	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs5994761	1.00[CEU][hapmap]
rs5994762	1.00[CEU][hapmap]
rs5994763	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994767	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994770	1.00[CEU][hapmap]
rs5998957	1.00[ASN][1000 genomes]
rs5998958	1.00[ASN][1000 genomes]
rs5998966	1.00[ASN][1000 genomes]
rs5998967	1.00[ASN][1000 genomes]
rs5998968	1.00[ASN][1000 genomes]
rs5998971	1.00[CEU][hapmap]
rs5998973	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs5998975	1.00[CEU][hapmap]
rs5998977	1.00[CEU][hapmap]
rs5998979	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998983	1.00[CEU][hapmap]
rs5998984	1.00[CEU][hapmap]
rs5998986	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998994	1.00[CEU][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5999003	1.00[ASN][1000 genomes]
rs5999004	1.00[ASN][1000 genomes]
rs5999005	1.00[ASN][1000 genomes]
rs5999011	1.00[ASN][1000 genomes]
rs60329459	1.00[ASN][1000 genomes]
rs61116783	1.00[ASN][1000 genomes]
rs6518831	1.00[ASN][1000 genomes]
rs7285886	1.00[ASN][1000 genomes]
rs7289701	1.00[CEU][hapmap]
rs7291415	1.00[CEU][hapmap]
rs7291626	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292590	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409058	1.00[ASN][1000 genomes]
rs8135091	1.00[ASN][1000 genomes]
rs8135817	1.00[ASN][1000 genomes]
rs9621704	1.00[ASN][1000 genomes]
rs9621705	1.00[ASN][1000 genomes]
rs9621706	1.00[ASN][1000 genomes]
rs9680562	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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	nsv1057547	chr22:33810445-33939474	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv1063275	chr22:33847076-33934464	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	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
16	esv2751963	chr22:33855512-33935897	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1065776	chr22:33860774-33934464	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	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
19	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
20	nsv1064943	chr22:33862239-33934464	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv1063011	chr22:33863218-33934464	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv914986	chr22:33863218-33967289	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv1067480	chr22:33865381-33934464	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv459877	chr22:33866854-33932624	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv588932	chr22:33866854-33932624	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv1066694	chr22:33868123-33928973	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv544687	chr22:33868123-33928973	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33906400-33935800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr22:33909400-33920800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr22:33909800-33920800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:33910000-33920800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr22:33912000-33921200	Weak transcription	Pancreas	Pancrea
6	chr22:33915000-33921000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:33915000-33921200	Enhancers	Primary B cells from peripheral blood	blood
8	chr22:33915600-33922400	Weak transcription	Stomach Mucosa	stomach
9	chr22:33915600-33923800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr22:33915800-33921000	Weak transcription	Fetal Heart	heart
11	chr22:33915800-33936000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr22:33916400-33922400	Weak transcription	Fetal Kidney	kidney
13	chr22:33916400-33925200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:33917400-33920800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:33917400-33921400	Enhancers	HepG2	liver
16	chr22:33917400-33926200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr22:33917400-33936000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:33917400-33966800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:33917600-33920800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:33917600-33921000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:33917600-33923200	Weak transcription	Fetal Stomach	stomach
22	chr22:33917600-33925200	Weak transcription	Aorta	Aorta
23	chr22:33917600-33934000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:33917800-33920800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr22:33918000-33921200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:33918200-33920800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:33918200-33939400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:33918400-33920800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:33918400-33921200	Enhancers	GM12878-XiMat	blood
30	chr22:33918400-33925200	Weak transcription	Right Ventricle	heart
31	chr22:33919400-33921400	Enhancers	A549	lung
32	chr22:33920200-33920800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr22:33920200-33921600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:33920400-33921600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:33920400-33921800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:33920600-33921200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr22:33920600-33921400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:33920600-33921400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr22:33920600-33923200	Weak transcription	Left Ventricle	heart

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