Variant report

Variant	rs61688449
Chromosome Location	chr22:31149721-31149722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31030523..31032317-chr22:31149700..31152237,3	K562	blood:
2	chr22:31089544..31092653-chr22:31148540..31151696,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction
ENSG00000100036	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11912801	1.00[AMR][1000 genomes]
rs11914180	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55841013	0.86[AFR][1000 genomes]
rs56305932	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58922136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60487986	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6518714	0.82[AFR][1000 genomes]
rs6518715	0.84[AFR][1000 genomes]
rs6518716	0.86[AFR][1000 genomes]
rs6518717	0.86[AFR][1000 genomes]
rs7287698	0.82[AFR][1000 genomes]
rs7289229	1.00[AMR][1000 genomes]
rs7289612	0.86[AFR][1000 genomes]
rs73400354	1.00[AMR][1000 genomes]
rs73400382	0.82[AFR][1000 genomes]
rs73402248	0.92[AFR][1000 genomes]
rs73884436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8136970	0.81[AFR][1000 genomes]
rs8137788	0.86[AFR][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	esv2763260	chr22:31141521-31185000	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31136000-31151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr22:31137600-31153000	Weak transcription	Gastric	stomach
3	chr22:31139400-31150200	Weak transcription	Brain Substantia Nigra	brain
4	chr22:31139600-31160000	Weak transcription	Brain Germinal Matrix	brain
5	chr22:31140000-31185400	Weak transcription	Fetal Brain Female	brain
6	chr22:31146200-31149800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:31146200-31152800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:31146400-31149800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:31148000-31150600	Enhancers	HSMM	muscle
10	chr22:31148200-31155800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:31148600-31149800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:31148600-31150800	Enhancers	Fetal Heart	heart
13	chr22:31148600-31151800	Enhancers	HSMMtube	muscle
14	chr22:31148800-31150000	Enhancers	Fetal Muscle Leg	muscle
15	chr22:31148800-31150200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:31148800-31151400	Enhancers	NHDF-Ad	bronchial
17	chr22:31149000-31150800	Enhancers	Placenta	Placenta
18	chr22:31149000-31151600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr22:31149000-31151600	Enhancers	Brain Cingulate Gyrus	brain
20	chr22:31149200-31149800	Enhancers	Right Ventricle	heart
21	chr22:31149200-31150000	Enhancers	Fetal Brain Male	brain
22	chr22:31149200-31151200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr22:31149200-31151200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:31149200-31151600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:31149200-31151600	Enhancers	Brain Angular Gyrus	brain
26	chr22:31149400-31149800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr22:31149400-31151400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:31149400-31151400	Enhancers	Brain Anterior Caudate	brain
29	chr22:31149400-31151400	Enhancers	Brain Hippocampus Middle	brain
30	chr22:31149400-31151400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:31149400-31151600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr22:31149600-31150000	Weak transcription	Spleen	Spleen
33	chr22:31149600-31151000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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