Variant report

Variant	rs6594333
Chromosome Location	chr5:108063410-108063411
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:48248243..48249080-chr5:108063065..108063808,2	NB4	blood:
2	chr5:108060235..108074407-chr5:108078172..108087811,48	K562	blood:
3	chr5:108062598..108065696-chr5:108743430..108747045,3	K562	blood:
4	chr11:65266347..65266939-chr5:108063228..108064155,2	Hela-S3	cervix:
5	chr5:108062273..108066431-chr5:108081834..108086243,5	MCF-7	breast:
6	chr5:108062575..108065883-chr5:108081229..108085721,5	MCF-7	breast:
7	chr5:108043545..108045265-chr5:108061960..108063883,2	K562	blood:
8	chr12:56321138..56322107-chr5:108063302..108063847,2	Hela-S3	cervix:
9	chr5:108061485..108063764-chr5:108531094..108533966,2	K562	blood:
10	chr16:4233359..4234054-chr5:108063372..108064026,2	Hela-S3	cervix:
11	chr5:108059312..108068052-chr5:108079113..108087366,42	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FER-1	chr5:108061406-108063661	XLOC_004501
2	lnc-FBXL17-2	chr5:108061406-108063661	NONHSAT103127

No data

Variant related genes	Relation type
ENSG00000198961	Chromatin interaction
ENSG00000105373	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000263105	Chromatin interaction
ENSG00000151422	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000170473	Chromatin interaction

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

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

rs_ID	r²[population]
rs10038669	0.92[JPT][hapmap]
rs10062204	0.85[JPT][hapmap]
rs10063167	0.92[JPT][hapmap]
rs10073668	0.92[JPT][hapmap]
rs1022045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10223256	0.82[AMR][1000 genomes]
rs1109617	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11240982	0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11739006	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12153703	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13173714	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13180513	0.92[JPT][hapmap]
rs1423457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17161476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2081126	0.93[JPT][hapmap]
rs2081129	0.93[JPT][hapmap]
rs28684578	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2900035	0.92[JPT][hapmap]
rs34660781	0.97[ASN][1000 genomes]
rs35398495	0.93[ASN][1000 genomes]
rs4957789	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6594334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6594336	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6871143	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6871239	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6873068	0.93[ASN][1000 genomes]
rs6874229	0.92[JPT][hapmap]
rs6880284	0.92[JPT][hapmap]
rs6889967	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6891194	0.92[JPT][hapmap]
rs6892439	0.96[ASN][1000 genomes]
rs6895027	0.93[JPT][hapmap]
rs7711795	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7712834	0.93[JPT][hapmap]
rs7716320	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7716485	0.96[ASN][1000 genomes]
rs7716498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7735235	0.93[JPT][hapmap]
rs9285863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9326748	0.92[JPT][hapmap]

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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108062200-108064000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:108062200-108065000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:108062400-108065000	Active TSS	Brain Hippocampus Middle	brain
4	chr5:108062600-108063600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:108062600-108063600	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr5:108062600-108063600	Flanking Active TSS	Fetal Lung	lung
7	chr5:108062600-108064200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:108062600-108064200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr5:108062600-108064400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:108062600-108064400	Active TSS	Fetal Intestine Large	intestine
11	chr5:108062600-108064600	Active TSS	Fetal Intestine Small	intestine
12	chr5:108062600-108064800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:108062600-108065000	Active TSS	Stomach Smooth Muscle	stomach
14	chr5:108062800-108063600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr5:108062800-108063600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr5:108062800-108063600	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr5:108062800-108063600	Flanking Active TSS	HMEC	breast
18	chr5:108062800-108064200	Active TSS	Colonic Mucosa	Colon
19	chr5:108062800-108064400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:108062800-108064400	Active TSS	Colon Smooth Muscle	Colon
21	chr5:108062800-108064600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr5:108062800-108064600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr5:108062800-108064600	Active TSS	Fetal Stomach	stomach
24	chr5:108062800-108064600	Active TSS	A549	lung
25	chr5:108062800-108064800	Active TSS	Aorta	Aorta
26	chr5:108062800-108064800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr5:108062800-108065000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:108062800-108065000	Active TSS	Brain Anterior Caudate	brain
29	chr5:108062800-108065000	Active TSS	Brain Cingulate Gyrus	brain
30	chr5:108062800-108065000	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr5:108062800-108065000	Active TSS	Right Atrium	heart
32	chr5:108062800-108065000	Active TSS	K562	blood
33	chr5:108063000-108063600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr5:108063000-108063600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr5:108063000-108063600	Flanking Active TSS	Liver	Liver
36	chr5:108063000-108063600	Flanking Active TSS	Fetal Heart	heart
37	chr5:108063000-108063600	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr5:108063000-108063600	Flanking Active TSS	Hela-S3	cervix
39	chr5:108063000-108063600	Flanking Active TSS	HUVEC	blood vessel
40	chr5:108063000-108063600	Flanking Active TSS	Osteobl	bone
41	chr5:108063000-108063800	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr5:108063000-108063800	Active TSS	Brain Germinal Matrix	brain
43	chr5:108063000-108064000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:108063000-108064000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr5:108063000-108064200	Active TSS	Duodenum Mucosa	Duodenum
46	chr5:108063000-108064200	Active TSS	HSMMtube	muscle
47	chr5:108063000-108064400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:108063000-108064400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:108063000-108064400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:108063000-108064400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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