Variant report

Variant	rs6812227
Chromosome Location	chr4:79582594-79582595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79581022..79584954-chr4:79599701..79603406,3	K562	blood:
2	chr4:79581907..79584896-chr4:79611311..79615634,4	K562	blood:
3	chr4:79577188..79580624-chr4:79581809..79584972,3	K562	blood:
4	chr4:79582164..79584750-chr4:79606523..79609231,2	MCF-7	breast:
5	chr4:79581815..79583840-chr4:79695430..79698371,3	MCF-7	breast:
6	chr4:79581359..79584183-chr4:79585994..79588670,2	K562	blood:
7	chr4:79581907..79584896-chr4:79611311..79614789,3	K562	blood:
8	chr4:79580127..79585145-chr4:79585599..79588670,4	K562	blood:
9	chr4:79577940..79580731-chr4:79581809..79584953,3	K562	blood:
10	chr4:79582169..79584322-chr4:79590823..79592622,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260278	Chromatin interaction
ENSG00000138756	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10007186	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10019240	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212636	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1107606	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1108907	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11724268	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724602	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11728013	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731482	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733032	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11736376	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11736602	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942573	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233694	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233707	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643488	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12646646	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12650411	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12711032	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120630	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138005	0.82[EUR][1000 genomes]
rs1834518	0.86[EUR][1000 genomes]
rs1972024	0.83[EUR][1000 genomes]
rs28597797	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34325799	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4073678	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073679	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074673	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074674	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075927	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077709	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270605	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306980	0.83[EUR][1000 genomes]
rs4353930	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4632683	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643844	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975148	0.85[EUR][1000 genomes]
rs6533825	0.83[EUR][1000 genomes]
rs6533835	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533842	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533845	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6811335	0.83[EUR][1000 genomes]
rs6812441	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814739	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819484	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824014	0.83[EUR][1000 genomes]
rs6829061	0.83[EUR][1000 genomes]
rs6829198	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6834587	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6835210	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835998	0.83[EUR][1000 genomes]
rs6836513	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838443	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840592	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845893	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846346	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6851341	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854055	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7317	0.83[EUR][1000 genomes]
rs7657082	0.83[EUR][1000 genomes]
rs7669866	0.80[EUR][1000 genomes]
rs7670506	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7680749	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7680766	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7682984	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7689154	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9998136	0.84[AMR][1000 genomes];0.86[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79564400-79589600	Weak transcription	Lung	lung
2	chr4:79567800-79583400	Weak transcription	Psoas Muscle	Psoas
3	chr4:79568000-79582800	Weak transcription	Right Atrium	heart
4	chr4:79572800-79582800	Weak transcription	Hela-S3	cervix
5	chr4:79573800-79583200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:79573800-79583600	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:79573800-79584200	Weak transcription	Left Ventricle	heart
8	chr4:79573800-79587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:79574200-79583000	Weak transcription	HSMMtube	muscle
10	chr4:79574400-79582600	Weak transcription	Brain Angular Gyrus	brain
11	chr4:79574400-79582800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:79575800-79583200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:79575800-79583200	Enhancers	NHDF-Ad	bronchial
14	chr4:79576600-79582600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:79577800-79583200	Enhancers	Osteobl	bone
16	chr4:79577800-79583400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:79578400-79583200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:79578600-79583200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:79578600-79583400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:79578800-79583200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:79579000-79582600	Weak transcription	Small Intestine	intestine
22	chr4:79579200-79582800	Weak transcription	Liver	Liver
23	chr4:79579400-79582800	Weak transcription	HSMM	muscle
24	chr4:79579400-79583200	Enhancers	HUVEC	blood vessel
25	chr4:79579400-79588000	Weak transcription	Spleen	Spleen
26	chr4:79579600-79585000	Weak transcription	Placenta	Placenta
27	chr4:79579800-79583400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:79580000-79583000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr4:79580000-79588000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:79580000-79588000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:79580200-79582800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:79580400-79583200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:79580400-79583800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr4:79580600-79582800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:79580600-79582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:79580600-79582800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:79580600-79583000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:79580800-79582600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:79580800-79582600	Weak transcription	Fetal Lung	lung
40	chr4:79580800-79582800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:79581000-79582600	Weak transcription	Adipose Nuclei	Adipose
42	chr4:79581000-79582600	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:79581000-79582600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:79581000-79582800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:79581000-79582800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:79581000-79583400	Weak transcription	Dnd41	blood
47	chr4:79581200-79582800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:79581400-79582600	Weak transcription	Brain Substantia Nigra	brain
49	chr4:79581400-79582800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:79581600-79582800	Enhancers	A549	lung

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