Variant report

Variant	rs74025780
Chromosome Location	chr16:69510343-69510344
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69510258..69512322-chr16:69518403..69520753,2	K562	blood:
2	chr16:69501011..69503265-chr16:69509366..69512589,3	K562	blood:
3	chr16:69509990..69511993-chr16:69515156..69517203,2	MCF-7	breast:
4	chr16:69508953..69512400-chr16:69516182..69519575,4	K562	blood:
5	chr16:69508953..69510739-chr16:69516182..69518376,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13332880	1.00[AMR][1000 genomes]
rs13336357	1.00[AMR][1000 genomes]
rs28402794	1.00[AMR][1000 genomes]
rs28514573	1.00[AMR][1000 genomes]
rs28535427	1.00[AMR][1000 genomes]
rs28607148	1.00[AMR][1000 genomes]
rs28628240	1.00[AMR][1000 genomes]
rs56735557	0.91[AFR][1000 genomes]
rs7196281	1.00[AMR][1000 genomes]
rs7196801	1.00[AMR][1000 genomes]
rs74025775	0.91[AFR][1000 genomes]
rs8049348	1.00[AMR][1000 genomes]
rs9674055	1.00[AMR][1000 genomes]
rs9921301	1.00[AMR][1000 genomes]
rs9923096	1.00[AMR][1000 genomes]
rs9924073	1.00[AMR][1000 genomes]
rs9924364	1.00[AMR][1000 genomes]
rs9925245	1.00[AMR][1000 genomes]
rs9926822	1.00[AMR][1000 genomes]
rs9932104	1.00[AMR][1000 genomes]
rs9933583	1.00[AMR][1000 genomes]
rs9937762	1.00[AMR][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	nsv1064808	chr16:69271190-69552951	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv542940	chr16:69271190-69552951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv906821	chr16:69509506-69576894	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69479600-69517600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:69489800-69510800	Weak transcription	Right Atrium	heart
3	chr16:69494200-69510800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:69497200-69510800	Weak transcription	Gastric	stomach
5	chr16:69497800-69510800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:69498000-69510600	Weak transcription	HSMMtube	muscle
7	chr16:69498800-69510400	Weak transcription	HSMM	muscle
8	chr16:69499200-69515600	Weak transcription	Left Ventricle	heart
9	chr16:69499400-69515000	Weak transcription	Thymus	Thymus
10	chr16:69500000-69510800	Weak transcription	NH-A	brain
11	chr16:69500600-69510400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:69500600-69510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:69500600-69515600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:69501000-69510400	Weak transcription	HMEC	breast
15	chr16:69501200-69516600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:69501600-69516000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:69502000-69515200	Weak transcription	Primary T cells from cord blood	blood
18	chr16:69502200-69510400	Weak transcription	NHEK	skin
19	chr16:69502800-69510400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:69502800-69510400	Weak transcription	Hela-S3	cervix
21	chr16:69503000-69510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:69504400-69514800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:69505200-69514800	Weak transcription	Spleen	Spleen
24	chr16:69505600-69514800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr16:69507200-69511800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:69507600-69514000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:69509400-69510600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:69509400-69512200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr16:69509800-69510400	Weak transcription	Fetal Kidney	kidney
30	chr16:69509800-69510800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr16:69510000-69510800	Enhancers	Osteobl	bone
32	chr16:69510000-69513600	Enhancers	Primary hematopoietic stem cells	blood
33	chr16:69510200-69510400	Enhancers	A549	lung
34	chr16:69510200-69510600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:69510200-69511000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:69510200-69511400	Enhancers	HepG2	liver
37	chr16:69510200-69511800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:69510200-69511800	Enhancers	K562	blood
39	chr16:69510200-69511800	Enhancers	NHLF	lung
40	chr16:69510200-69512000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:69510200-69512200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:69510200-69512200	Enhancers	HUVEC	blood vessel
43	chr16:69510200-69512200	Enhancers	NHDF-Ad	bronchial
44	chr16:69510200-69512400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr16:69510200-69513800	Enhancers	Placenta	Placenta

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