Variant report

Variant	rs6048439
Chromosome Location	chr20:22902943-22902944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:22901207..22904183-chr20:22915299..22918759,4	MCF-7	breast:
2	chr20:22900656..22904360-chr20:22978776..22982262,5	MCF-7	breast:
3	chr20:22901978..22904415-chr20:22911923..22913954,2	MCF-7	breast:
4	chr20:22899505..22903019-chr20:23028419..23032380,6	MCF-7	breast:
5	chr20:22902051..22904598-chr20:22921205..22922879,2	K562	blood:
6	chr20:22900035..22903023-chr20:23024141..23027571,3	MCF-7	breast:
7	chr20:22902164..22904561-chr20:22953091..22955799,2	MCF-7	breast:
8	chr20:22902552..22904666-chr20:23025197..23027691,2	MCF-7	breast:
9	chr20:22900605..22903566-chr20:22954324..22956434,2	MCF-7	breast:
10	chr20:22901686..22903593-chr20:22909582..22911175,2	K562	blood:
11	chr20:22902861..22905382-chr20:22990891..22992574,2	MCF-7	breast:
12	chr20:22815149..22818148-chr20:22902918..22904475,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11905036	1.00[AMR][1000 genomes]
rs11905574	1.00[AMR][1000 genomes]
rs11908240	1.00[AMR][1000 genomes]
rs6036254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6036273	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6048424	0.89[AFR][1000 genomes]
rs6048442	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6048480	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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv510782	chr20:22806573-22907739	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22900800-22903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr20:22901400-22903200	Enhancers	Primary hematopoietic stem cells	blood
3	chr20:22901400-22904000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr20:22901600-22903800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:22901600-22904000	Enhancers	Dnd41	blood
6	chr20:22901800-22903200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:22901800-22903200	Enhancers	Hela-S3	cervix
8	chr20:22901800-22903400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:22902000-22903000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr20:22902000-22903200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr20:22902000-22903200	Enhancers	HMEC	breast
12	chr20:22902200-22903000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr20:22902200-22903000	Flanking Active TSS	K562	blood
14	chr20:22902200-22903000	Bivalent Enhancer	Osteobl	bone
15	chr20:22902200-22903200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:22902200-22903200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr20:22902200-22903800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:22902200-22903800	Weak transcription	Ovary	ovary
19	chr20:22902400-22903200	Enhancers	NHLF	lung
20	chr20:22902400-22903400	Enhancers	NHEK	skin
21	chr20:22902400-22903800	Weak transcription	Fetal Muscle Leg	muscle
22	chr20:22902400-22907000	Enhancers	HSMMtube	muscle
23	chr20:22902600-22903400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr20:22902600-22903400	Enhancers	NHDF-Ad	bronchial
25	chr20:22902600-22906800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr20:22902800-22903000	Flanking Active TSS	HSMM	muscle
27	chr20:22902800-22903000	Flanking Active TSS	HUVEC	blood vessel
28	chr20:22902800-22903200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr20:22902800-22903200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr20:22902800-22903400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr20:22902800-22903400	Enhancers	A549	lung
32	chr20:22902800-22906800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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