Variant report

Variant	rs4654018
Chromosome Location	chr1:224491264-224491265
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224303502..224304306-chr1:224490866..224491741,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10799560	1.00[AMR][1000 genomes]
rs10799561	1.00[AMR][1000 genomes]
rs16849317	1.00[AMR][1000 genomes]
rs1878852	1.00[AMR][1000 genomes]
rs2404860	1.00[AMR][1000 genomes]
rs35529540	1.00[AMR][1000 genomes]
rs4436353	1.00[AMR][1000 genomes]
rs4653576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58444825	1.00[AMR][1000 genomes]
rs6426109	1.00[AMR][1000 genomes]
rs6682420	1.00[AMR][1000 genomes]
rs6682432	1.00[AMR][1000 genomes]
rs6692013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124418	1.00[AMR][1000 genomes]
rs73124426	1.00[AMR][1000 genomes]
rs73124444	1.00[AMR][1000 genomes]
rs73124475	1.00[AMR][1000 genomes]
rs73124496	1.00[AMR][1000 genomes]
rs73124501	1.00[AMR][1000 genomes]
rs7522125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7530828	1.00[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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
2	chr1:224439800-224501600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:224461200-224505600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr1:224465000-224504400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:224465000-224504400	Strong transcription	Liver	Liver
6	chr1:224465000-224505200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:224465000-224505600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:224465400-224505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:224466400-224505400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:224466400-224505400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:224466400-224505600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:224466600-224505600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:224466800-224499200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:224468000-224505200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:224468200-224496000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:224468600-224500000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr1:224469800-224493200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:224473000-224496200	Strong transcription	Dnd41	blood
19	chr1:224473200-224497400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:224473600-224505400	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:224473600-224505400	Strong transcription	Fetal Thymus	thymus
22	chr1:224474400-224497200	Weak transcription	Stomach Mucosa	stomach
23	chr1:224474600-224496000	Strong transcription	Adipose Nuclei	Adipose
24	chr1:224474600-224498000	Strong transcription	Primary T cells from cord blood	blood
25	chr1:224475600-224505800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:224476000-224496200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:224476000-224505600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:224476000-224506200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:224476400-224505600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:224476600-224500000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:224476600-224505600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:224476600-224506200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:224477400-224505800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:224478000-224499600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:224478400-224496000	Strong transcription	K562	blood
36	chr1:224478400-224501000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:224478400-224504800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:224478400-224505400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:224478600-224496000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr1:224478600-224498200	Strong transcription	Fetal Brain Female	brain
41	chr1:224478600-224500600	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:224478800-224491800	Strong transcription	Rectal Smooth Muscle	rectum
43	chr1:224478800-224505200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr1:224478800-224505400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:224479200-224496000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:224479400-224492000	Strong transcription	GM12878-XiMat	blood
47	chr1:224479400-224498800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:224479600-224491800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:224479600-224497400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:224480000-224493000	Strong transcription	Brain Hippocampus Middle	brain

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