Variant report

Variant	rs6819484
Chromosome Location	chr4:79576534-79576535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79536352..79538431-chr4:79574021..79576567,2	K562	blood:
2	chr4:79575433..79577300-chr4:79588056..79590576,2	MCF-7	breast:
3	chr4:79569060..79573102-chr4:79573355..79577371,7	K562	blood:
4	chr4:79574980..79576539-chr4:79577266..79578943,2	K562	blood:
5	chr4:79573461..79577118-chr4:79700688..79703892,3	K562	blood:
6	chr4:79573609..79576927-chr4:79583175..79586831,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251019	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10007186	0.95[EUR][1000 genomes]
rs10019240	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212636	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1107606	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1108907	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11724268	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724602	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11728013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731482	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733032	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11736376	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11736602	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942573	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233694	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233707	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643488	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12646646	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12650411	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12711032	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120630	0.93[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	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28597797	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34325799	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4073678	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073679	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074673	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074674	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075927	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077709	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270605	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306980	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4353930	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4632683	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643844	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975148	0.89[EUR][1000 genomes]
rs6533825	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6533835	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533842	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533845	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6811335	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6812227	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812441	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814739	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824014	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6829061	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6829198	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6834587	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6835210	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835998	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6836513	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838443	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840592	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845893	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846346	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6851341	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854055	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7317	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7657082	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7669674	0.87[AMR][1000 genomes]
rs7669866	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7670506	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7680749	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7680766	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7682984	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7689154	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7697461	0.80[EUR][1000 genomes]
rs9998136	0.85[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:64 , 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	chr4:79564400-79577200	Weak transcription	Fetal Thymus	thymus
3	chr4:79564400-79589600	Weak transcription	Lung	lung
4	chr4:79567800-79578200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:79567800-79580400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:79567800-79583400	Weak transcription	Psoas Muscle	Psoas
7	chr4:79568000-79578000	Enhancers	HUVEC	blood vessel
8	chr4:79568000-79582800	Weak transcription	Right Atrium	heart
9	chr4:79571000-79576600	Enhancers	Osteobl	bone
10	chr4:79571800-79578200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:79572000-79576600	Weak transcription	Spleen	Spleen
12	chr4:79572200-79578000	Enhancers	K562	blood
13	chr4:79572800-79582800	Weak transcription	Hela-S3	cervix
14	chr4:79573000-79576600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr4:79573000-79579000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:79573600-79578000	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:79573800-79577400	Weak transcription	Dnd41	blood
20	chr4:79573800-79578200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:79573800-79578800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:79573800-79579000	Weak transcription	HSMM	muscle
23	chr4:79573800-79579000	Weak transcription	NHEK	skin
24	chr4:79573800-79583200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:79573800-79583600	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:79573800-79584200	Weak transcription	Left Ventricle	heart
27	chr4:79573800-79587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:79574000-79581800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:79574000-79582400	Weak transcription	Fetal Heart	heart
30	chr4:79574200-79580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:79574200-79583000	Weak transcription	HSMMtube	muscle
32	chr4:79574400-79579000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:79574400-79582600	Weak transcription	Brain Angular Gyrus	brain
34	chr4:79574400-79582800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:79574600-79577200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr4:79574800-79576600	Enhancers	NHLF	lung
37	chr4:79574800-79577200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr4:79574800-79578200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr4:79574800-79580200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:79575000-79580400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:79575200-79577600	Weak transcription	GM12878-XiMat	blood
42	chr4:79575400-79576600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:79575400-79576600	Enhancers	Primary T cells from cord blood	blood
44	chr4:79575400-79581000	Enhancers	Adipose Nuclei	Adipose
45	chr4:79575600-79576600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:79575600-79576600	Enhancers	Fetal Muscle Leg	muscle
47	chr4:79575800-79576600	Enhancers	Fetal Muscle Trunk	muscle
48	chr4:79575800-79578000	Enhancers	Primary B cells from cord blood	blood
49	chr4:79575800-79578200	Weak transcription	NH-A	brain
50	chr4:79575800-79578400	Weak transcription	Brain Anterior Caudate	brain

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