Variant report

Variant	rs56252446
Chromosome Location	chr1:210614178-210614179
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210545855..210547911-chr1:210612937..210615260,3	K562	blood:
2	chr1:210612929..210615850-chr1:210617890..210620157,2	K562	blood:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11809771	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11810188	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12025108	0.82[AFR][1000 genomes]
rs12408887	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003698	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103692	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2206609	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357590	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34549224	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765846	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845015	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845017	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845028	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845030	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845031	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845032	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72745472	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72745499	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs742562	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527066	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7534912	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7534914	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs910030	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910031	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910032	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926578	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	esv2756883	chr1:210579523-210620779	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	esv2758995	chr1:210579523-210620779	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1001747	chr1:210604734-210615281	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv999833	chr1:210604734-210620211	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv2764216	chr1:210604746-210615293	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210567400-210617200	Weak transcription	Left Ventricle	heart
2	chr1:210571400-210641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:210592800-210625000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:210609200-210619800	Weak transcription	Esophagus	oesophagus
5	chr1:210610600-210614800	Enhancers	Fetal Muscle Leg	muscle
6	chr1:210610600-210615000	Enhancers	Osteobl	bone
7	chr1:210610800-210614800	Enhancers	NHDF-Ad	bronchial
8	chr1:210611200-210614800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:210611400-210614600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:210611600-210618400	Weak transcription	Thymus	Thymus
11	chr1:210611600-210639600	Weak transcription	Aorta	Aorta
12	chr1:210611800-210614200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:210611800-210614200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:210611800-210614200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:210611800-210614600	Enhancers	A549	lung
16	chr1:210611800-210614600	Enhancers	HMEC	breast
17	chr1:210611800-210614800	Enhancers	NHEK	skin
18	chr1:210612000-210615000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:210612200-210614600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:210612600-210618400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:210612800-210614800	Flanking Active TSS	HSMMtube	muscle
22	chr1:210612800-210615000	Enhancers	HSMM	muscle
23	chr1:210613000-210618600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:210613200-210614200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:210613200-210614600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:210613600-210614200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:210613600-210614400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:210613600-210614600	Enhancers	NH-A	brain
29	chr1:210613600-210615000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:210613600-210619600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:210613800-210614200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr1:210613800-210614600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr1:210613800-210614600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:210613800-210615200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:210613800-210619400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:210614000-210618400	Weak transcription	Placenta	Placenta

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