Variant report

Variant	rs2055645
Chromosome Location	chr5:40616589-40616590
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	chr5:40616320..40619140-chr5:40679252..40680964,2	MCF-7	breast:
2	chr5:40615152..40618553-chr5:40619253..40622598,5	K562	blood:

Variant related genes	Relation type
ENSG00000171522	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1057631	1.00[ASN][1000 genomes]
rs10737963	1.00[ASN][1000 genomes]
rs13155724	1.00[ASN][1000 genomes]
rs13167906	1.00[ASN][1000 genomes]
rs13186505	1.00[ASN][1000 genomes]
rs34783322	1.00[ASN][1000 genomes]
rs35867196	1.00[ASN][1000 genomes]
rs4266456	1.00[ASN][1000 genomes]
rs4304113	1.00[ASN][1000 genomes]
rs4345353	1.00[ASN][1000 genomes]
rs72747942	1.00[ASN][1000 genomes]
rs7724201	1.00[ASN][1000 genomes]
rs954686	1.00[ASN][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	nsv880993	chr5:40521648-40682550	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40606600-40622400	Weak transcription	HSMMtube	muscle
2	chr5:40613400-40618000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:40615000-40616800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:40615000-40617200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr5:40615200-40616600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr5:40615200-40617200	Enhancers	Adipose Nuclei	Adipose
7	chr5:40615200-40617600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr5:40615400-40616600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:40615400-40617000	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:40615400-40617200	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:40615400-40617400	Enhancers	Dnd41	blood
12	chr5:40615400-40618000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:40615600-40616600	Enhancers	Osteobl	bone
14	chr5:40616200-40617000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr5:40616200-40617200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:40616200-40617200	Enhancers	Primary T cells from cord blood	blood
17	chr5:40616200-40617200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:40616200-40617600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:40616200-40619000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:40616200-40619400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:40616400-40616800	Weak transcription	Primary B cells from cord blood	blood
22	chr5:40616400-40618200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:40616400-40618800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:40616400-40619000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:40616400-40619000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:40616400-40619000	Weak transcription	HMEC	breast
27	chr5:40616400-40619000	Weak transcription	HSMM	muscle
28	chr5:40616400-40619200	Weak transcription	NHEK	skin
29	chr5:40616400-40619600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:40616400-40620600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:40616400-40621800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:40616400-40622200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr5:40616400-40622600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:40616400-40623200	Weak transcription	Rectal Mucosa Donor 31	rectum

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