Variant report

Variant	rs6518714
Chromosome Location	chr22:31138795-31138796
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	chr22:31138448..31141256-chr22:31142885..31145479,3	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11912793	1.00[AMR][1000 genomes]
rs11913730	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11914180	0.90[AFR][1000 genomes]
rs16988993	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs35941285	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56305932	0.92[AFR][1000 genomes]
rs56348572	0.85[AFR][1000 genomes]
rs57114503	1.00[AMR][1000 genomes]
rs58922136	0.80[AFR][1000 genomes]
rs60487986	0.86[AFR][1000 genomes]
rs61688449	0.82[AFR][1000 genomes]
rs7287698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400346	0.88[AFR][1000 genomes]
rs73400353	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400355	1.00[AMR][1000 genomes]
rs73400364	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400370	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8137597	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8138072	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8139321	1.00[AMR][1000 genomes]
rs8143079	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31114000-31140600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
3	chr22:31117000-31140200	Weak transcription	Pancreas	Pancrea
4	chr22:31128200-31139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr22:31129000-31144800	Weak transcription	Brain Angular Gyrus	brain
6	chr22:31129000-31149400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr22:31129000-31149400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:31129200-31138800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:31134000-31141600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr22:31134600-31148800	Weak transcription	NHDF-Ad	bronchial
11	chr22:31136000-31138800	Enhancers	GM12878-XiMat	blood
12	chr22:31136000-31151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:31136200-31148800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:31137000-31138800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:31137000-31139800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr22:31137200-31138800	Weak transcription	Brain Germinal Matrix	brain
17	chr22:31137400-31139000	Weak transcription	Spleen	Spleen
18	chr22:31137400-31139200	Strong transcription	Brain Anterior Caudate	brain
19	chr22:31137400-31139800	Weak transcription	K562	blood
20	chr22:31137600-31139800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr22:31137600-31147200	Weak transcription	Aorta	Aorta
22	chr22:31137600-31147600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:31137600-31153000	Weak transcription	Gastric	stomach
24	chr22:31137800-31148800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr22:31137800-31149000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr22:31138200-31139200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:31138400-31138800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:31138400-31138800	Enhancers	HMEC	breast
29	chr22:31138400-31139000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr22:31138400-31139000	Enhancers	HSMMtube	muscle
31	chr22:31138400-31139200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:31138400-31139400	Strong transcription	Brain Substantia Nigra	brain
33	chr22:31138400-31140000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr22:31138400-31140400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr22:31138600-31139000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:31138600-31139000	Enhancers	Hela-S3	cervix
37	chr22:31138600-31139400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:31138600-31140000	Strong transcription	Fetal Brain Female	brain
39	chr22:31138600-31140200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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