Variant report

Variant	rs55858102
Chromosome Location	chr22:31226696-31226697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31220489..31223329-chr22:31226581..31228922,2	K562	blood:
2	chr22:31224247..31227135-chr22:31248254..31250701,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MORC2-5	chr22:31226532-31228414	ucscGeneNc_uc003amw_1

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55841013	1.00[AMR][1000 genomes]
rs56104306	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57021529	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57614295	1.00[ASN][1000 genomes]
rs58198077	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58511316	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58832459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58902211	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59786430	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60486108	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61467505	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6518715	1.00[AMR][1000 genomes]
rs6518716	1.00[AMR][1000 genomes]
rs6518717	1.00[AMR][1000 genomes]
rs7284316	0.96[AFR][1000 genomes]
rs7284605	1.00[ASN][1000 genomes]
rs7289612	1.00[AMR][1000 genomes]
rs73402248	1.00[AMR][1000 genomes]
rs73402267	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402268	1.00[ASN][1000 genomes]
rs73402291	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8137788	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31221600-31227200	Enhancers	Brain Angular Gyrus	brain
2	chr22:31222600-31227000	Weak transcription	Pancreas	Pancrea
3	chr22:31223200-31227600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr22:31224400-31227600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr22:31224800-31228200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:31225000-31228000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:31225000-31228200	Enhancers	HMEC	breast
8	chr22:31225200-31226800	Weak transcription	Spleen	Spleen
9	chr22:31225400-31227400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:31225400-31229400	Enhancers	HSMM	muscle
11	chr22:31225600-31227600	Enhancers	HUVEC	blood vessel
12	chr22:31225800-31227000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:31225800-31227600	Enhancers	NHLF	lung
14	chr22:31225800-31227800	Enhancers	Fetal Lung	lung
15	chr22:31225800-31227800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr22:31225800-31228600	Enhancers	Esophagus	oesophagus
17	chr22:31226000-31226800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:31226000-31226800	Enhancers	Fetal Brain Male	brain
19	chr22:31226000-31227400	Enhancers	Brain Anterior Caudate	brain
20	chr22:31226000-31227400	Enhancers	Brain Substantia Nigra	brain
21	chr22:31226000-31227600	Enhancers	Brain Cingulate Gyrus	brain
22	chr22:31226200-31227000	Flanking Active TSS	NHEK	skin
23	chr22:31226200-31227200	Enhancers	Fetal Brain Female	brain
24	chr22:31226200-31227600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:31226200-31227600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr22:31226200-31227600	Enhancers	Brain Hippocampus Middle	brain
27	chr22:31226400-31226800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:31226400-31226800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:31226400-31226800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:31226400-31226800	Enhancers	Right Ventricle	heart
31	chr22:31226400-31226800	Enhancers	Stomach Smooth Muscle	stomach
32	chr22:31226400-31226800	Flanking Active TSS	Hela-S3	cervix
33	chr22:31226400-31226800	Flanking Active TSS	NH-A	brain
34	chr22:31226400-31226800	Flanking Active TSS	Osteobl	bone
35	chr22:31226400-31227000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:31226400-31227000	Flanking Active TSS	HSMMtube	muscle
37	chr22:31226400-31227200	Enhancers	Brain Germinal Matrix	brain
38	chr22:31226400-31227400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr22:31226400-31227400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr22:31226400-31227400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr22:31226400-31227400	Enhancers	Adipose Nuclei	Adipose
42	chr22:31226400-31227600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr22:31226400-31227600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr22:31226400-31227600	Enhancers	Stomach Mucosa	stomach
45	chr22:31226400-31227800	Enhancers	Psoas Muscle	Psoas
46	chr22:31226400-31228000	Flanking Active TSS	A549	lung
47	chr22:31226600-31226800	Enhancers	NHDF-Ad	bronchial
48	chr22:31226600-31227200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr22:31226600-31227200	Enhancers	Fetal Heart	heart
50	chr22:31226600-31227400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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