Variant report

Variant	rs58506944
Chromosome Location	chr3:46172030-46172031
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46171083..46172669-chr3:46203226..46205309,3	MCF-7	breast:
2	chr3:46167391..46169192-chr3:46171465..46173672,2	K562	blood:
3	chr3:46161021..46162671-chr3:46170985..46172785,2	K562	blood:

Variant related genes	Relation type
ENSG00000183625	Chromatin interaction

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

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

rs_ID	r²[population]
rs6773520	1.00[AMR][1000 genomes]
rs6785530	1.00[AMR][1000 genomes]
rs6787855	1.00[AMR][1000 genomes]
rs6788690	1.00[AMR][1000 genomes]
rs6790653	1.00[AMR][1000 genomes]
rs6798186	1.00[AMR][1000 genomes]
rs7622764	1.00[AMR][1000 genomes]
rs7624945	0.83[AFR][1000 genomes];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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46166600-46172600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:46167000-46175600	Weak transcription	Fetal Lung	lung
3	chr3:46168800-46178200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:46169000-46172600	Enhancers	Dnd41	blood
5	chr3:46169800-46173400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:46170000-46177200	Enhancers	Fetal Thymus	thymus
7	chr3:46170600-46172800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:46170800-46172600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr3:46170800-46174200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:46171000-46172200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:46171000-46172800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr3:46171200-46172200	Enhancers	Primary B cells from cord blood	blood
13	chr3:46171400-46172800	Enhancers	Placenta	Placenta
14	chr3:46171600-46172400	Enhancers	Primary hematopoietic stem cells	blood
15	chr3:46171600-46175400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr3:46171800-46172200	Enhancers	Fetal Muscle Leg	muscle
17	chr3:46171800-46172200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:46171800-46172600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:46171800-46173000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:46171800-46173400	Weak transcription	Spleen	Spleen
21	chr3:46171800-46174000	Enhancers	Adipose Nuclei	Adipose
22	chr3:46172000-46172600	Enhancers	Rectal Mucosa Donor 31	rectum

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