Variant report

Variant	rs57354037
Chromosome Location	chr1:56792015-56792016
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: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12030284	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030407	0.90[EUR][1000 genomes]
rs12043349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138574	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4418654	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4442403	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4543846	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4912176	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4912189	0.81[AMR][1000 genomes]
rs4912324	0.81[AMR][1000 genomes]
rs57578827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60984146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772691	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61772727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6677504	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7524955	0.86[ASN][1000 genomes]
rs7555594	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][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:27 , 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	chr1:56770400-56792200	Weak transcription	Right Ventricle	heart
3	chr1:56780400-56793600	Weak transcription	Liver	Liver
4	chr1:56782000-56797000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:56784200-56792200	Weak transcription	Lung	lung
6	chr1:56787000-56805600	Weak transcription	Left Ventricle	heart
7	chr1:56787200-56800600	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:56787400-56793000	Weak transcription	Fetal Heart	heart
9	chr1:56788400-56796200	Weak transcription	Psoas Muscle	Psoas
10	chr1:56790400-56794800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:56791000-56792400	Enhancers	Ovary	ovary
12	chr1:56791000-56792600	Enhancers	NHDF-Ad	bronchial
13	chr1:56791200-56792600	Enhancers	Osteobl	bone
14	chr1:56791200-56820800	Weak transcription	Aorta	Aorta
15	chr1:56791400-56792200	Enhancers	HSMM	muscle
16	chr1:56791400-56792200	Enhancers	HUVEC	blood vessel
17	chr1:56791400-56792400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:56791600-56792400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:56791800-56792600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:56791800-56794200	Weak transcription	NHLF	lung
21	chr1:56791800-56794600	Weak transcription	HSMMtube	muscle
22	chr1:56791800-56794800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:56791800-56796000	Weak transcription	NH-A	brain
24	chr1:56792000-56792200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:56792000-56792200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:56792000-56792400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:56792000-56795800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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