Variant report

Variant	rs57857531
Chromosome Location	chr3:46132911-46132912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46130825..46132979-chr3:46149857..46153032,4	MCF-7	breast:
2	chr3:46129568..46133226-chr3:46150928..46153874,4	MCF-7	breast:
3	chr3:46127005..46128993-chr3:46132615..46135304,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1500006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17078579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41395345	1.00[AMR][1000 genomes]
rs57509359	1.00[AMR][1000 genomes]
rs58692140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59253523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59862185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60829665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60854606	1.00[AMR][1000 genomes]
rs73830722	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830725	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830733	1.00[AFR][1000 genomes]
rs73830737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830784	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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46127200-46138200	Weak transcription	Primary T cells from cord blood	blood
2	chr3:46129200-46147400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46129400-46154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:46129800-46134000	Enhancers	Primary B cells from cord blood	blood
5	chr3:46129800-46134200	Enhancers	GM12878-XiMat	blood
6	chr3:46129800-46140000	Enhancers	Fetal Thymus	thymus
7	chr3:46130200-46141200	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:46130600-46133200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:46130600-46133200	Enhancers	Placenta	Placenta
10	chr3:46130600-46143000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr3:46130800-46135600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:46130800-46135800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:46131400-46134600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:46131400-46137400	Weak transcription	Colonic Mucosa	Colon
15	chr3:46131400-46138000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:46131400-46152200	Weak transcription	Pancreas	Pancrea
17	chr3:46131800-46133000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr3:46132000-46133000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:46132000-46135800	Enhancers	Dnd41	blood
20	chr3:46132000-46139000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:46132000-46139000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:46132000-46140200	Enhancers	Primary hematopoietic stem cells	blood
23	chr3:46132200-46134400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr3:46132200-46138000	Weak transcription	NHDF-Ad	bronchial
25	chr3:46132400-46133200	Enhancers	Brain Substantia Nigra	brain
26	chr3:46132400-46138800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:46132400-46139000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:46132600-46133000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr3:46132600-46134600	Weak transcription	Spleen	Spleen
30	chr3:46132600-46137600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:46132600-46138000	Weak transcription	Adipose Nuclei	Adipose

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