Variant report

Variant	rs7675464
Chromosome Location	chr4:79551949-79551950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79549970..79552473-chr4:79560389..79564299,4	K562	blood:
2	chr4:79549841..79552363-chr4:79696027..79698127,2	MCF-7	breast:
3	chr4:79550103..79553175-chr4:79717288..79720915,3	K562	blood:
4	chr4:79549184..79553600-chr4:79560172..79565329,6	K562	blood:
5	chr4:79547404..79553256-chr4:79694666..79698430,7	K562	blood:

Variant related genes	Relation type
ENSG00000138756	Chromatin interaction
ENSG00000260278	Chromatin interaction
ENSG00000238816	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10028815	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10029214	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10857035	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098274	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11098275	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11098278	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11932080	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12510383	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12510411	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12639656	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12644222	0.85[ASN][1000 genomes]
rs12711028	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13110339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1346145	0.80[AMR][1000 genomes]
rs1532427	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28579596	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34636970	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4074675	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4254805	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4495064	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4560439	0.80[AMR][1000 genomes]
rs4612	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4645238	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5944	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62308286	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6533827	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6533828	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6815367	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6817175	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6821449	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6822675	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6825328	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6842686	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6842723	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7656801	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659978	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7675646	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7677783	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7699905	0.82[AMR][1000 genomes]
rs9992088	0.81[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79542200-79555600	Enhancers	Fetal Intestine Small	intestine
2	chr4:79542600-79555600	Enhancers	Fetal Intestine Large	intestine
3	chr4:79546600-79553000	Enhancers	Placenta	Placenta
4	chr4:79548000-79553200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:79548200-79552600	Enhancers	Duodenum Mucosa	Duodenum
6	chr4:79548200-79555000	Weak transcription	Osteobl	bone
7	chr4:79548600-79553600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:79548800-79552200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:79548800-79557400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:79549600-79560000	Weak transcription	HMEC	breast
11	chr4:79549800-79552000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:79549800-79552000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr4:79549800-79554200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:79550000-79552000	Enhancers	Hela-S3	cervix
15	chr4:79550000-79552200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr4:79550000-79552800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:79550200-79552000	Enhancers	Brain Anterior Caudate	brain
18	chr4:79550200-79552200	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:79550200-79553200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:79550200-79556600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:79550400-79555000	Weak transcription	NHDF-Ad	bronchial
22	chr4:79550400-79564200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:79550600-79552200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr4:79550600-79552800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr4:79551200-79552400	Flanking Active TSS	GM12878-XiMat	blood
26	chr4:79551200-79554200	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:79551200-79554400	Weak transcription	Brain Substantia Nigra	brain
28	chr4:79551400-79552200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:79551400-79553200	Enhancers	K562	blood
30	chr4:79551400-79553600	Weak transcription	Left Ventricle	heart
31	chr4:79551400-79553600	Weak transcription	Pancreas	Pancrea
32	chr4:79551400-79555200	Weak transcription	Right Atrium	heart
33	chr4:79551400-79558400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:79551600-79552000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:79551600-79552000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr4:79551600-79552000	Enhancers	Colon Smooth Muscle	Colon
38	chr4:79551600-79552200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:79551600-79552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:79551600-79553800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:79551600-79555000	Weak transcription	Adipose Nuclei	Adipose
42	chr4:79551600-79555600	Enhancers	Primary B cells from peripheral blood	blood
43	chr4:79551800-79552000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr4:79551800-79552400	Weak transcription	Colonic Mucosa	Colon
45	chr4:79551800-79552600	Enhancers	Small Intestine	intestine

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