Variant report

Variant	rs60848515
Chromosome Location	chr22:34254648-34254649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1013337	0.85[AMR][1000 genomes]
rs10427743	0.85[AMR][1000 genomes]
rs16993014	1.00[AMR][1000 genomes]
rs16993101	0.85[AMR][1000 genomes]
rs16993257	0.85[AMR][1000 genomes]
rs16993269	0.85[AMR][1000 genomes]
rs28714114	0.85[AMR][1000 genomes]
rs4525791	1.00[AMR][1000 genomes]
rs55833428	0.85[AMR][1000 genomes]
rs55883936	0.82[AFR][1000 genomes]
rs58484073	0.81[AFR][1000 genomes]
rs58888938	0.83[AMR][1000 genomes]
rs58948382	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59015613	1.00[AMR][1000 genomes]
rs59027659	0.84[AFR][1000 genomes]
rs59594190	1.00[AMR][1000 genomes]
rs5994799	0.85[AMR][1000 genomes]
rs5999094	0.85[AMR][1000 genomes]
rs5999104	0.85[AMR][1000 genomes]
rs5999112	0.85[AMR][1000 genomes]
rs7284260	0.85[AMR][1000 genomes]
rs7287539	0.85[AMR][1000 genomes]
rs7290245	0.85[AMR][1000 genomes]
rs73402852	0.83[AMR][1000 genomes]
rs73402876	0.83[AMR][1000 genomes]
rs73402881	0.83[AMR][1000 genomes]
rs73404896	0.83[AFR][1000 genomes]
rs73406608	1.00[AMR][1000 genomes]
rs73406626	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406702	0.85[AMR][1000 genomes]
rs73408411	0.85[AMR][1000 genomes]
rs8135517	1.00[AMR][1000 genomes]
rs8136512	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr22:34247800-34263000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:34250000-34256600	Weak transcription	Lung	lung
3	chr22:34250000-34256600	Weak transcription	Pancreas	Pancrea
4	chr22:34250000-34256800	Weak transcription	Gastric	stomach
5	chr22:34250000-34260400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:34250000-34261000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:34250200-34255600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:34250200-34256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr22:34250200-34256800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr22:34250400-34255400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr22:34250400-34256600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:34250400-34256600	Weak transcription	Right Atrium	heart
13	chr22:34250600-34255600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:34250600-34257200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:34250600-34260000	Weak transcription	Fetal Intestine Small	intestine
16	chr22:34250600-34260400	Weak transcription	NHLF	lung
17	chr22:34250600-34260600	Weak transcription	Colon Smooth Muscle	Colon
18	chr22:34250800-34255400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:34250800-34255400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr22:34250800-34255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:34250800-34255600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr22:34250800-34261000	Weak transcription	Fetal Brain Male	brain
23	chr22:34251000-34255400	Weak transcription	Brain Angular Gyrus	brain
24	chr22:34251000-34255400	Weak transcription	Brain Hippocampus Middle	brain
25	chr22:34251000-34257000	Weak transcription	Brain Anterior Caudate	brain
26	chr22:34251000-34257200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr22:34251000-34259000	Weak transcription	Fetal Intestine Large	intestine
28	chr22:34251000-34259200	Weak transcription	GM12878-XiMat	blood
29	chr22:34251000-34260400	Weak transcription	Brain Substantia Nigra	brain
30	chr22:34251000-34260400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr22:34251000-34269200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:34251200-34268000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:34251600-34255600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr22:34251600-34256600	Weak transcription	Ovary	ovary
35	chr22:34251600-34256800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr22:34252000-34255400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr22:34252400-34267600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr22:34252800-34256400	Weak transcription	Right Ventricle	heart
39	chr22:34253400-34255600	Weak transcription	Fetal Heart	heart
40	chr22:34254200-34255200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr22:34254400-34256400	Weak transcription	Left Ventricle	heart
42	chr22:34254400-34256600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:34254400-34268000	Weak transcription	Spleen	Spleen
44	chr22:34254600-34269200	Weak transcription	Fetal Stomach	stomach

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