Variant report

Variant	rs6815367
Chromosome Location	chr4:79576097-79576098
allele	A/C
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	chr4:79573896..79576451-chr4:79609109..79611530,2	K562	blood:
6	chr4:79573461..79577118-chr4:79700688..79703892,3	K562	blood:
7	chr4:79573609..79576927-chr4:79583175..79586831,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251019	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10008008	0.80[EUR][1000 genomes]
rs10008069	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10029214	0.81[AMR][1000 genomes]
rs10857035	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11098274	0.82[AMR][1000 genomes]
rs11098275	0.80[AMR][1000 genomes]
rs11098278	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1134123	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1134124	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11932080	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12510383	0.82[AMR][1000 genomes]
rs12510411	0.82[AMR][1000 genomes]
rs12639656	0.81[AMR][1000 genomes]
rs13110339	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13133277	0.81[EUR][1000 genomes]
rs1346145	0.84[AMR][1000 genomes]
rs1532427	0.83[AMR][1000 genomes]
rs1806906	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1834519	0.82[EUR][1000 genomes]
rs28579596	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2867465	0.81[EUR][1000 genomes]
rs2867466	0.81[EUR][1000 genomes]
rs34636970	0.81[AMR][1000 genomes]
rs4074675	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4254805	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4257676	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4264856	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4321658	0.84[EUR][1000 genomes]
rs4365753	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4495064	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4560439	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4612	0.81[AMR][1000 genomes]
rs4619914	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4645238	0.82[AMR][1000 genomes]
rs5944	0.81[AMR][1000 genomes]
rs62308286	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6533827	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6533828	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6533940	0.81[EUR][1000 genomes]
rs6818230	0.81[EUR][1000 genomes]
rs6821449	0.81[AMR][1000 genomes]
rs6822675	0.81[AMR][1000 genomes]
rs6825328	0.81[AMR][1000 genomes]
rs6842723	0.80[AMR][1000 genomes]
rs6855458	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7656801	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7659978	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7675464	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7677783	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7699905	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9992088	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	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	chr4:79564400-79577200	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	chr4:79571000-79576400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:79571000-79576600	Enhancers	Osteobl	bone
11	chr4:79571800-79578200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:79572000-79576600	Weak transcription	Spleen	Spleen
13	chr4:79572200-79578000	Enhancers	K562	blood
14	chr4:79572800-79582800	Weak transcription	Hela-S3	cervix
15	chr4:79573000-79576600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:79573000-79579000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:79573600-79578000	Enhancers	Primary hematopoietic stem cells	blood
20	chr4:79573800-79576200	Enhancers	Brain Substantia Nigra	brain
21	chr4:79573800-79577400	Weak transcription	Dnd41	blood
22	chr4:79573800-79578200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:79573800-79578800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:79573800-79579000	Weak transcription	HSMM	muscle
25	chr4:79573800-79579000	Weak transcription	NHEK	skin
26	chr4:79573800-79583200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:79573800-79583600	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:79573800-79584200	Weak transcription	Left Ventricle	heart
29	chr4:79573800-79587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:79574000-79581800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:79574000-79582400	Weak transcription	Fetal Heart	heart
32	chr4:79574200-79580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:79574200-79583000	Weak transcription	HSMMtube	muscle
34	chr4:79574400-79579000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:79574400-79582600	Weak transcription	Brain Angular Gyrus	brain
36	chr4:79574400-79582800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:79574600-79577200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr4:79574800-79576200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:79574800-79576600	Enhancers	NHLF	lung
40	chr4:79574800-79577200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr4:79574800-79578200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:79574800-79580200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:79575000-79580400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:79575200-79577600	Weak transcription	GM12878-XiMat	blood
45	chr4:79575400-79576200	Enhancers	Primary B cells from peripheral blood	blood
46	chr4:79575400-79576200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:79575400-79576200	Enhancers	Fetal Stomach	stomach
48	chr4:79575400-79576400	Enhancers	Fetal Lung	lung
49	chr4:79575400-79576600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:79575400-79576600	Enhancers	Primary T cells from cord blood	blood

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