Variant report

Variant	rs2344183
Chromosome Location	chr3:88088373-88088374
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	chr3:88087550..88089989-chr3:88107384..88108978,2	MCF-7	breast:
2	chr3:88085983..88088623-chr3:88097073..88098808,2	K562	blood:

Variant related genes	Relation type
ENSG00000163320	Chromatin interaction
ENSG00000229729	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12632860	1.00[ASN][1000 genomes]
rs1431154	1.00[ASN][1000 genomes]
rs1431155	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431156	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469570	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1594453	1.00[ASN][1000 genomes]
rs1594455	1.00[ASN][1000 genomes]
rs1604700	1.00[ASN][1000 genomes]
rs1835544	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1897238	1.00[ASN][1000 genomes]
rs2033390	1.00[ASN][1000 genomes]
rs2344184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880793	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4431134	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4515075	1.00[ASN][1000 genomes]
rs4616669	1.00[ASN][1000 genomes]
rs4858927	1.00[ASN][1000 genomes]
rs4858970	1.00[ASN][1000 genomes]
rs6301	0.83[EUR][1000 genomes]
rs6767497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650749	1.00[ASN][1000 genomes]
rs919582	0.94[AFR][1000 genomes]
rs930154	1.00[ASN][1000 genomes]
rs930155	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9310062	1.00[ASN][1000 genomes]
rs9310063	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9310064	1.00[ASN][1000 genomes]
rs9812903	1.00[ASN][1000 genomes]
rs9833231	1.00[ASN][1000 genomes]
rs9850550	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9854250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9867614	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877146	chr3:87983962-88159835	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv536635	chr3:88049304-88088520	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv916330	chr3:88083580-88884125	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv525814	chr3:88085633-88091543	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88081800-88091200	Weak transcription	Right Atrium	heart
2	chr3:88085200-88089000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:88086600-88088600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:88086600-88089000	Enhancers	NHDF-Ad	bronchial
5	chr3:88086800-88089000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:88087000-88088400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:88087000-88088400	Enhancers	HMEC	breast
8	chr3:88087000-88088400	Enhancers	NHEK	skin
9	chr3:88087200-88088600	Enhancers	Osteobl	bone
10	chr3:88087600-88088400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:88087600-88088400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:88087600-88088400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:88087600-88090600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:88087800-88088400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:88088000-88088400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:88088000-88092800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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