Variant report

Variant	rs3789419
Chromosome Location	chr1:94547432-94547433
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	chr1:94546449..94548986-chr1:94550186..94552023,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17111014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111019	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111021	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72958486	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871057	chr1:94513142-94577286	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871558	chr1:94544276-94576968	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv870555	chr1:94545160-94577744	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94536400-94556400	Weak transcription	Right Atrium	heart
2	chr1:94539600-94548600	Weak transcription	Thymus	Thymus
3	chr1:94541600-94550400	Weak transcription	Spleen	Spleen
4	chr1:94545000-94549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:94545400-94549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:94545800-94549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:94545800-94549400	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:94545800-94554000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:94545800-94557600	Weak transcription	Brain Angular Gyrus	brain
10	chr1:94546000-94549200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:94546000-94550000	Weak transcription	Fetal Kidney	kidney
12	chr1:94546200-94549400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:94546400-94549600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:94546800-94547600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:94546800-94547600	Enhancers	Dnd41	blood
16	chr1:94546800-94548200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:94546800-94548400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:94546800-94548400	Enhancers	HMEC	breast
19	chr1:94546800-94550600	Enhancers	Fetal Thymus	thymus
20	chr1:94547000-94548200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:94547000-94548200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:94547000-94548200	Enhancers	Osteobl	bone
23	chr1:94547000-94548400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:94547000-94548400	Enhancers	NHDF-Ad	bronchial
25	chr1:94547000-94549400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:94547200-94547600	Enhancers	HSMM	muscle
27	chr1:94547200-94547600	Flanking Active TSS	NHEK	skin
28	chr1:94547200-94548000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:94547200-94548200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:94547200-94548200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:94547200-94548200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:94547200-94548200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:94547200-94548200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:94547200-94548200	Enhancers	HSMMtube	muscle
35	chr1:94547200-94548400	Enhancers	NHLF	lung
36	chr1:94547400-94547600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr1:94547400-94548200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:94547400-94549000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:94547400-94549000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:94547400-94549400	Weak transcription	Primary T cells from cord blood	blood

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