Variant report

Variant	rs73124458
Chromosome Location	chr1:224324772-224324773
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	chr1:224323938..224326362-chr1:224344749..224346885,2	K562	blood:
2	chr1:224316899..224321028-chr1:224322259..224326330,4	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12239040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57105953	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57441274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59738860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60172546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60877434	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60998173	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61022093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681511	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122502	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124414	0.93[AFR][1000 genomes]
rs73124430	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124499	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73126403	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73126432	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7546034	0.97[AFR][1000 genomes];1.00[AMR][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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873222	chr1:224292898-224335422	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224302800-224327200	Weak transcription	Aorta	Aorta
2	chr1:224303000-224329000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:224314400-224333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:224314400-224343400	Weak transcription	Psoas Muscle	Psoas
6	chr1:224315800-224331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:224316400-224331200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:224316600-224352200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:224317200-224329800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:224317600-224328400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:224317600-224333400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:224317800-224325000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:224317800-224328200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr1:224317800-224328400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:224317800-224334000	Strong transcription	Fetal Intestine Large	intestine
16	chr1:224318000-224328400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr1:224318000-224328400	Strong transcription	Fetal Thymus	thymus
18	chr1:224318000-224328600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr1:224318000-224329600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr1:224318000-224330600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:224318000-224331200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:224318000-224332000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:224318200-224325400	Strong transcription	Adipose Nuclei	Adipose
24	chr1:224318200-224333400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:224318400-224331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:224319000-224325200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:224319200-224329600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:224319200-224334000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:224319200-224335000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:224319400-224328200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:224319600-224328400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:224319800-224331200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:224320000-224325200	Weak transcription	GM12878-XiMat	blood
34	chr1:224320000-224326600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:224320200-224344800	Weak transcription	Gastric	stomach
36	chr1:224320200-224345000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:224320200-224345000	Weak transcription	HUVEC	blood vessel
38	chr1:224320400-224325800	Weak transcription	Lung	lung
39	chr1:224320400-224327400	Weak transcription	Esophagus	oesophagus
40	chr1:224320400-224329800	Weak transcription	Spleen	Spleen
41	chr1:224320400-224344800	Weak transcription	Small Intestine	intestine
42	chr1:224320400-224345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:224320400-224345000	Weak transcription	Right Ventricle	heart
44	chr1:224320400-224345200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:224320600-224326600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:224320600-224344000	Weak transcription	Brain Germinal Matrix	brain
47	chr1:224320600-224345000	Weak transcription	Pancreas	Pancrea
48	chr1:224320600-224345200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:224320800-224325200	Weak transcription	HSMMtube	muscle
50	chr1:224320800-224325400	Weak transcription	H9 Cell Line	embryonic stem cell

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