Variant report

Variant	rs12233707
Chromosome Location	chr4:79577576-79577577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79574980..79576539-chr4:79577266..79578943,2	K562	blood:
2	chr4:79577188..79580624-chr4:79581809..79584972,3	K562	blood:
3	chr4:79577461..79581484-chr4:79593008..79596742,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10007186	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10019240	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212636	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1107606	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1108907	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11724268	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724602	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11728013	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731482	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733032	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11736376	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11736602	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942573	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233694	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643488	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12646646	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12650411	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12711032	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120630	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138005	0.87[EUR][1000 genomes]
rs1834518	0.81[EUR][1000 genomes]
rs1972024	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28597797	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34325799	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4073678	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073679	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074673	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074674	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075927	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077709	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270605	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306980	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4353930	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4632683	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643844	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975148	0.89[EUR][1000 genomes]
rs6533825	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6533835	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533842	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533845	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6811335	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6812227	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812441	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814739	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6815344	0.81[AMR][1000 genomes]
rs6819484	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824014	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6829061	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6829198	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6834587	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6835210	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835998	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6836513	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838443	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840592	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845893	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846346	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6851341	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854055	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7317	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7657082	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7669674	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7669866	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7670506	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7680749	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7680766	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7682984	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7689154	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7697461	0.80[EUR][1000 genomes]
rs9998136	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:79564400-79589600	Weak transcription	Lung	lung
3	chr4:79567800-79578200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:79567800-79580400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:79567800-79583400	Weak transcription	Psoas Muscle	Psoas
6	chr4:79568000-79578000	Enhancers	HUVEC	blood vessel
7	chr4:79568000-79582800	Weak transcription	Right Atrium	heart
8	chr4:79571800-79578200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:79572200-79578000	Enhancers	K562	blood
10	chr4:79572800-79582800	Weak transcription	Hela-S3	cervix
11	chr4:79573000-79579000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:79573600-79578000	Enhancers	Primary hematopoietic stem cells	blood
15	chr4:79573800-79578200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:79573800-79578800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:79573800-79579000	Weak transcription	HSMM	muscle
18	chr4:79573800-79579000	Weak transcription	NHEK	skin
19	chr4:79573800-79583200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:79573800-79583600	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:79573800-79584200	Weak transcription	Left Ventricle	heart
22	chr4:79573800-79587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:79574000-79581800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:79574000-79582400	Weak transcription	Fetal Heart	heart
25	chr4:79574200-79580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:79574200-79583000	Weak transcription	HSMMtube	muscle
27	chr4:79574400-79579000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:79574400-79582600	Weak transcription	Brain Angular Gyrus	brain
29	chr4:79574400-79582800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:79574800-79578200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr4:79574800-79580200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:79575000-79580400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:79575200-79577600	Weak transcription	GM12878-XiMat	blood
34	chr4:79575400-79581000	Enhancers	Adipose Nuclei	Adipose
35	chr4:79575800-79578000	Enhancers	Primary B cells from cord blood	blood
36	chr4:79575800-79578200	Weak transcription	NH-A	brain
37	chr4:79575800-79578400	Weak transcription	Brain Anterior Caudate	brain
38	chr4:79575800-79583200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:79575800-79583200	Enhancers	NHDF-Ad	bronchial
40	chr4:79576000-79579000	Weak transcription	Placenta	Placenta
41	chr4:79576000-79580200	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:79576200-79578000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:79576200-79578200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:79576200-79578200	Weak transcription	Thymus	Thymus
45	chr4:79576200-79580200	Weak transcription	Brain Substantia Nigra	brain
46	chr4:79576400-79577800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:79576400-79577800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:79576400-79578800	Weak transcription	Fetal Lung	lung
49	chr4:79576600-79577600	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:79576600-79577800	Enhancers	Spleen	Spleen

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