Variant report

Variant	rs4912189
Chromosome Location	chr1:56792726-56792727
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	chr1:56791612..56794231-chr1:56795931..56797660,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11206787	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12043349	0.81[AMR][1000 genomes]
rs4418654	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4442403	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4543846	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4912324	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57354037	0.81[AMR][1000 genomes]
rs57578827	0.81[AMR][1000 genomes]
rs60984146	0.81[AMR][1000 genomes]
rs61772727	0.81[AMR][1000 genomes]
rs61772729	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7555594	0.81[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:25 , 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	chr1:56780400-56793600	Weak transcription	Liver	Liver
3	chr1:56782000-56797000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:56787000-56805600	Weak transcription	Left Ventricle	heart
5	chr1:56787200-56800600	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:56787400-56793000	Weak transcription	Fetal Heart	heart
7	chr1:56788400-56796200	Weak transcription	Psoas Muscle	Psoas
8	chr1:56790400-56794800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:56791200-56820800	Weak transcription	Aorta	Aorta
10	chr1:56791800-56794200	Weak transcription	NHLF	lung
11	chr1:56791800-56794600	Weak transcription	HSMMtube	muscle
12	chr1:56791800-56794800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:56791800-56796000	Weak transcription	NH-A	brain
14	chr1:56792000-56795800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:56792200-56794200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:56792200-56796000	Weak transcription	HUVEC	blood vessel
17	chr1:56792200-56797000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:56792400-56792800	Weak transcription	Lung	lung
19	chr1:56792400-56794200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:56792400-56794600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:56792400-56798200	Weak transcription	Ovary	ovary
22	chr1:56792600-56794200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:56792600-56794200	Weak transcription	NHDF-Ad	bronchial
24	chr1:56792600-56794400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:56792600-56794400	Weak transcription	Osteobl	bone

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