Variant report

Variant	rs1423429
Chromosome Location	chr5:37847558-37847559
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37811779..37814008-chr5:37847060..37848825,2	K562	blood:
2	chr5:37847283..37849747-chr5:37922255..37924001,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1423451	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1981844	0.99[ASN][1000 genomes]
rs2910693	1.00[ASN][1000 genomes]
rs2910695	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910696	0.99[ASN][1000 genomes]
rs2910748	0.92[EUR][1000 genomes]
rs2910756	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2910761	0.88[ASN][1000 genomes]
rs2910762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973033	0.97[ASN][1000 genomes]
rs2973041	0.86[EUR][1000 genomes]
rs2973113	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2973116	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973123	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 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	chr5:37841000-37850400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:37841200-37848000	Weak transcription	Psoas Muscle	Psoas
3	chr5:37841400-37848000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:37841600-37847600	Weak transcription	HMEC	breast
5	chr5:37842600-37848000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:37843800-37848800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:37844400-37847600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:37844400-37847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:37844600-37853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:37845400-37848000	Weak transcription	Fetal Stomach	stomach
11	chr5:37846200-37848600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:37846400-37848600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:37846400-37848800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:37846400-37848800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:37846400-37850800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:37846600-37848600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:37846600-37848600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:37846600-37849200	Enhancers	NHEK	skin
19	chr5:37846800-37847600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr5:37846800-37848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:37846800-37848600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:37846800-37848800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:37846800-37849600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:37847000-37849000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:37847200-37847800	Weak transcription	Aorta	Aorta
26	chr5:37847200-37848800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:37847200-37849600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:37847200-37851200	Enhancers	Osteobl	bone
29	chr5:37847200-37851400	Enhancers	NHDF-Ad	bronchial
30	chr5:37847400-37848000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:37847400-37848400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:37847400-37848600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:37847400-37848800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:37847400-37851400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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