Variant report

Variant	rs283080
Chromosome Location	chr6:118606000-118606001
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:118605631..118606342-chr6:118829971..118830837,2	K562	blood:
2	chr6:118604722..118606041-chr6:119121374..119122599,5	K562	blood:
3	chr6:118604657..118606544-chr6:118829791..118831020,17	MCF-7	breast:
4	chr6:118604757..118606576-chr6:118829465..118831114,11	MCF-7	breast:
5	chr6:118605730..118606559-chr6:118871514..118872878,6	MCF-7	breast:
6	chr6:118604900..118606173-chr6:118871913..118872830,3	K562	blood:
7	chr6:118605685..118606279-chr6:118872026..118872908,3	MCF-7	breast:
8	chr6:118605722..118606318-chr6:118901882..118902460,2	MCF-7	breast:

No data

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11758375	0.85[ASN][1000 genomes]
rs1690662	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17079898	0.82[ASN][1000 genomes]
rs176014	0.82[ASN][1000 genomes]
rs1874081	0.84[EUR][1000 genomes]
rs281861	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs281864	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs281867	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs281868	0.95[ASN][1000 genomes]
rs283077	0.94[ASN][1000 genomes]
rs283081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283082	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283083	0.86[ASN][1000 genomes]
rs283084	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283085	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283086	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283087	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283088	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs283091	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs372237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs376875	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs387945	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3951016	0.90[ASN][1000 genomes]
rs397445	0.81[ASN][1000 genomes]
rs399844	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs414091	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs422268	0.81[ASN][1000 genomes]
rs422833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs427027	0.86[ASN][1000 genomes]
rs431115	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs445566	0.81[ASN][1000 genomes]
rs447193	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946333	0.95[ASN][1000 genomes]
rs55697000	0.83[ASN][1000 genomes]
rs6569009	0.81[ASN][1000 genomes]
rs6912208	0.95[ASN][1000 genomes]
rs6927800	0.86[ASN][1000 genomes]
rs72965660	0.83[ASN][1000 genomes]
rs731695	0.81[ASN][1000 genomes]
rs7452622	0.82[ASN][1000 genomes]
rs7749263	0.82[ASN][1000 genomes]
rs89107	0.95[ASN][1000 genomes]
rs927348	0.81[ASN][1000 genomes]
rs9401060	0.94[ASN][1000 genomes]
rs9489327	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118601600-118606200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:118601800-118606400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:118602800-118606400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:118603000-118606400	Enhancers	Fetal Heart	heart
5	chr6:118603400-118610000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:118604600-118606800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:118604800-118606000	Enhancers	Rectal Smooth Muscle	rectum
8	chr6:118604800-118607400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:118605000-118606200	Weak transcription	NHDF-Ad	bronchial
10	chr6:118605000-118606800	Enhancers	Colon Smooth Muscle	Colon
11	chr6:118605000-118607600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:118605000-118607600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr6:118605200-118606600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:118605200-118607000	Weak transcription	NHLF	lung
15	chr6:118605400-118606000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:118605600-118606000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:118605600-118606000	Weak transcription	Osteobl	bone
18	chr6:118605600-118606800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:118605600-118607400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:118605800-118608400	Enhancers	Stomach Smooth Muscle	stomach
21	chr6:118606000-118606400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:118606000-118606600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:118606000-118607600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:118606000-118607600	Enhancers	Osteobl	bone

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