Variant report

Variant	rs4442403
Chromosome Location	chr1:56795047-56795048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11206787	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12043349	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12138574	0.81[AMR][1000 genomes]
rs4418654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4543846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912189	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4912324	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57354037	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs57578827	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs60984146	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs61772727	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs61772729	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7555594	0.84[AMR][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	nsv1006422	chr1:56734772-56828606	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534972	chr1:56734772-56828606	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1015037	chr1:56784322-56814739	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56765200-56795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:56782000-56797000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:56787000-56805600	Weak transcription	Left Ventricle	heart
4	chr1:56787200-56800600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:56788400-56796200	Weak transcription	Psoas Muscle	Psoas
6	chr1:56791200-56820800	Weak transcription	Aorta	Aorta
7	chr1:56791800-56796000	Weak transcription	NH-A	brain
8	chr1:56792000-56795800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:56792200-56796000	Weak transcription	HUVEC	blood vessel
10	chr1:56792200-56797000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:56792400-56798200	Weak transcription	Ovary	ovary
12	chr1:56793200-56796600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:56793800-56795400	Weak transcription	Fetal Heart	heart
14	chr1:56793800-56797000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:56794000-56795400	Weak transcription	Liver	Liver
16	chr1:56794200-56797200	Enhancers	NHLF	lung
17	chr1:56794200-56798000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:56794200-56798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:56794200-56798200	Enhancers	NHDF-Ad	bronchial
20	chr1:56794400-56796400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:56794400-56796600	Enhancers	HepG2	liver
22	chr1:56794400-56797200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:56794400-56797400	Enhancers	Osteobl	bone
24	chr1:56794400-56797800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:56794600-56796400	Enhancers	HSMMtube	muscle
26	chr1:56794600-56798000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:56794600-56798000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:56794600-56798000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:56794800-56795200	Weak transcription	GM12878-XiMat	blood
30	chr1:56794800-56795400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:56794800-56795600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:56794800-56797000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:56794800-56797200	Enhancers	Placenta	Placenta
34	chr1:56795000-56795400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:56795000-56795400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr1:56795000-56796000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:56795000-56796000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:56795000-56797000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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