Variant report

Variant	rs5998957
Chromosome Location	chr22:33872261-33872262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10428061	1.00[ASN][1000 genomes]
rs11912942	1.00[ASN][1000 genomes]
rs12157578	1.00[ASN][1000 genomes]
rs12158851	1.00[ASN][1000 genomes]
rs34122356	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56033146	1.00[ASN][1000 genomes]
rs57779654	1.00[ASN][1000 genomes]
rs58141020	1.00[ASN][1000 genomes]
rs5994749	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994752	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994753	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994755	1.00[ASN][1000 genomes]
rs5994756	1.00[ASN][1000 genomes]
rs5994763	1.00[ASN][1000 genomes]
rs5994767	1.00[ASN][1000 genomes]
rs5998953	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998958	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5998965	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998966	1.00[ASN][1000 genomes]
rs5998967	1.00[ASN][1000 genomes]
rs5998968	1.00[ASN][1000 genomes]
rs5998979	1.00[ASN][1000 genomes]
rs5998986	1.00[ASN][1000 genomes]
rs5998993	1.00[ASN][1000 genomes]
rs5998994	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]
rs7291626	1.00[ASN][1000 genomes]
rs7292590	1.00[ASN][1000 genomes]
rs73409058	1.00[ASN][1000 genomes]
rs8135091	1.00[ASN][1000 genomes]
rs8135817	1.00[ASN][1000 genomes]
rs9621704	0.86[EUR][1000 genomes];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:41 , 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	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1061485	chr22:33670971-33885169	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv1064026	chr22:33767185-33902059	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv1060862	chr22:33810445-33891296	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	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
20	nsv588931	chr22:33834668-33907964	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv1055729	chr22:33835828-33875225	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	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
23	nsv914984	chr22:33848936-33907964	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	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
25	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
26	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
27	nsv1062437	chr22:33861531-33891296	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv544685	chr22:33861531-33891296	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
29	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
30	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
31	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
32	nsv914985	chr22:33862494-33898368	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	esv2758541	chr22:33868945-33909546	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv2758832	chr22:33868945-33909546	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33861800-33872800	Weak transcription	Pancreas	Pancrea
2	chr22:33862200-33883000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr22:33864000-33888200	Weak transcription	Fetal Stomach	stomach
4	chr22:33864000-33888200	Weak transcription	Ovary	ovary
5	chr22:33864200-33872800	Weak transcription	Right Atrium	heart
6	chr22:33868000-33872600	Weak transcription	Osteobl	bone
7	chr22:33868400-33872400	Weak transcription	NHDF-Ad	bronchial
8	chr22:33869000-33872400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:33869000-33873600	Weak transcription	Aorta	Aorta
10	chr22:33869000-33876400	Weak transcription	HSMMtube	muscle
11	chr22:33869600-33872400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr22:33870600-33872400	Enhancers	Fetal Heart	heart
13	chr22:33871000-33872800	Weak transcription	Right Ventricle	heart
14	chr22:33871200-33872400	Weak transcription	Left Ventricle	heart
15	chr22:33871200-33872800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr22:33871200-33873000	Weak transcription	Psoas Muscle	Psoas
17	chr22:33871200-33873600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr22:33871200-33875000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr22:33871400-33872600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:33871400-33873600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:33871600-33873000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:33871600-33873200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr22:33871800-33872400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:33871800-33873000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr22:33871800-33873800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr22:33871800-33874400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr22:33871800-33874600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr22:33871800-33875200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:33872000-33873000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:33872000-33874200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr22:33872000-33874800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr22:33872000-33874800	Enhancers	HepG2	liver
33	chr22:33872000-33875000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr22:33872000-33875000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr22:33872200-33872800	Enhancers	A549	lung
36	chr22:33872200-33873000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:33872200-33873000	Enhancers	Gastric	stomach
38	chr22:33872200-33873200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:33872200-33873200	Enhancers	GM12878-XiMat	blood
40	chr22:33872200-33873400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr22:33872200-33873800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:33872200-33874000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:33872200-33874000	Enhancers	NH-A	brain
44	chr22:33872200-33874200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr22:33872200-33874400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:33872200-33874400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr22:33872200-33874400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr22:33872200-33874400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr22:33872200-33874600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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