Variant report

Variant	rs4453033
Chromosome Location	chr1:223674041-223674042
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223672287..223674921-chr1:223677312..223680286,2	K562	blood:
2	chr1:223663192..223665002-chr1:223674014..223676550,2	K562	blood:
3	chr1:223673872..223675904-chr1:223680727..223683330,2	K562	blood:
4	chr1:223649592..223651737-chr1:223672758..223675302,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10157965	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11261292	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11261293	0.88[EUR][1000 genomes]
rs12123913	0.91[EUR][1000 genomes]
rs12138605	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140078	0.94[EUR][1000 genomes]
rs12141379	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141649	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568823	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4636451	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57041991	0.91[EUR][1000 genomes]
rs6661598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689010	0.91[EUR][1000 genomes]
rs6698392	1.00[ASN][1000 genomes]
rs6702233	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7414159	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74148031	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531954	0.90[AMR][1000 genomes];0.96[EUR][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	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 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	chr1:223672600-223675800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:223672800-223674600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:223672800-223674600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:223673000-223675200	Enhancers	HMEC	breast
5	chr1:223673200-223674400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:223673200-223674400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:223673200-223674400	Enhancers	HSMM	muscle
8	chr1:223673200-223674400	Enhancers	NHLF	lung
9	chr1:223673200-223674600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:223673200-223674600	Enhancers	Lung	lung
11	chr1:223673200-223674800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:223673200-223675000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:223673200-223675000	Enhancers	NH-A	brain
14	chr1:223673400-223674200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:223673400-223674400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:223673400-223674400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:223673400-223674400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:223673400-223674400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:223673400-223674400	Enhancers	Stomach Mucosa	stomach
20	chr1:223673400-223674600	Enhancers	Esophagus	oesophagus
21	chr1:223673400-223674600	Enhancers	NHDF-Ad	bronchial
22	chr1:223673600-223674200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:223673600-223674400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:223673600-223674400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:223673600-223674400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr1:223673600-223674400	Enhancers	HUVEC	blood vessel
27	chr1:223673800-223674200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:223673800-223674400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:223673800-223674400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:223673800-223674400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:223673800-223674400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:223673800-223674600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:223673800-223675200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:223674000-223674200	Enhancers	NHEK	skin
35	chr1:223674000-223674200	Enhancers	Osteobl	bone
36	chr1:223674000-223674400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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