Variant report

Variant	rs28462312
Chromosome Location	chr4:75185324-75185325
allele	G/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:75185069..75187817-chr4:75594549..75599298,4	MCF-7	breast:
2	chr4:75184279..75188446-chr4:75594088..75602141,9	MCF-7	breast:
3	chr4:75184628..75186278-chr4:75573620..75576234,2	K562	blood:
4	chr4:75182418..75184438-chr4:75184845..75186853,2	K562	blood:
5	chr4:75184788..75188448-chr4:75240732..75243292,5	MCF-7	breast:
6	chr4:75184159..75187825-chr4:75548477..75550130,4	MCF-7	breast:
7	chr4:75184705..75187953-chr4:75546623..75549644,3	MCF-7	breast:
8	chr4:75181467..75184781-chr4:75184845..75186626,3	K562	blood:
9	chr4:75177378..75179809-chr4:75183381..75186094,2	K562	blood:
10	chr4:75184855..75186836-chr4:75508740..75510695,2	MCF-7	breast:
11	chr4:75184694..75186462-chr4:75506531..75508249,2	MCF-7	breast:
12	chr4:75024456..75026319-chr4:75184021..75186282,2	K562	blood:

No data

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10006685	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10011730	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014791	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10015148	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1246576	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246583	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246589	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246592	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246593	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246595	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246596	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1460004	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542468	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850833	0.84[EUR][1000 genomes]
rs16850864	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850866	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850889	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850892	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850898	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850899	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850903	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850939	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611754	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28382340	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28417935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28423375	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28434222	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588511	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28663170	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28721942	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28788278	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs492042	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56667969	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572987	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6821364	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845763	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7656041	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656313	0.90[ASN][1000 genomes]
rs7665228	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7670644	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689369	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697394	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9683437	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9884572	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9884653	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9992624	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9993008	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75149800-75186200	Weak transcription	K562	blood
2	chr4:75175000-75186400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:75175400-75185600	Weak transcription	Osteobl	bone
4	chr4:75175600-75186600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:75175600-75189000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:75176800-75186600	Weak transcription	Esophagus	oesophagus
7	chr4:75177600-75185800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:75177600-75186200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:75181600-75185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:75182200-75185400	Weak transcription	NHEK	skin
11	chr4:75182400-75185800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:75182600-75185800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:75183800-75185400	Weak transcription	HMEC	breast
14	chr4:75184400-75185400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:75184600-75185400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:75184600-75187000	Enhancers	Hela-S3	cervix
17	chr4:75185200-75185600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:75185200-75186600	Enhancers	NHDF-Ad	bronchial
19	chr4:75185200-75187600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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