Variant report

Variant	rs4679740
Chromosome Location	chr3:155000500-155000501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:154750287..154752198-chr3:154998853..155000708,2	K562	blood:
2	chr3:154981299..154983558-chr3:154999263..155002067,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1021214	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1038484	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12330640	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12330689	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1601383	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1872413	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2872694	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679741	0.87[ASN][1000 genomes]
rs58524948	0.82[AMR][1000 genomes]
rs62279085	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9814433	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9846392	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9855353	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9873251	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1000753	chr3:154848433-155207022	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv536773	chr3:154848433-155207022	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv829762	chr3:154879350-155052986	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr3:154998000-155001400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:154998000-155001800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:154998800-155002200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:154999400-155001000	Enhancers	Dnd41	blood
5	chr3:154999400-155001600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:154999600-155000600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:154999600-155000600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:154999600-155000800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr3:154999600-155001200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:154999800-155000800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:154999800-155000800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:154999800-155000800	Enhancers	HSMM	muscle
13	chr3:154999800-155000800	Enhancers	NHDF-Ad	bronchial
14	chr3:154999800-155001000	Enhancers	HSMMtube	muscle
15	chr3:154999800-155001200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:154999800-155001400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr3:154999800-155002000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:154999800-155002000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:155000000-155001000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:155000000-155001000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:155000000-155002800	Enhancers	Placenta	Placenta
22	chr3:155000200-155000600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:155000200-155000800	Enhancers	HepG2	liver
24	chr3:155000200-155001000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr3:155000200-155001400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:155000200-155002000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:155000200-155005800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:155000400-155000800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:155000400-155000800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:155000400-155001000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:155000400-155001000	Enhancers	Fetal Thymus	thymus
32	chr3:155000400-155001000	Enhancers	Osteobl	bone
33	chr3:155000400-155001200	Enhancers	K562	blood
34	chr3:155000400-155001400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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