Variant report

Variant	rs1295394
Chromosome Location	chr6:119676444-119676445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119674592..119677137-chr6:119682701..119685226,2	K562	blood:
2	chr6:119668152..119672285-chr6:119673337..119678807,6	MCF-7	breast:
3	chr6:119671114..119672646-chr6:119674979..119676830,2	K562	blood:
4	chr6:119671114..119673053-chr6:119674972..119676830,3	K562	blood:
5	chr6:119674592..119678182-chr6:119682701..119685453,4	K562	blood:

Variant related genes	Relation type
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11153815	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12526344	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12528127	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12529667	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12530171	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1295374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1295380	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1295390	0.82[AFR][1000 genomes]
rs1342313	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1418376	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs171843	0.90[ASN][1000 genomes]
rs195047	0.84[ASN][1000 genomes]
rs195049	0.83[ASN][1000 genomes]
rs195053	0.87[ASN][1000 genomes]
rs195054	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs195055	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs195057	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs195060	0.90[ASN][1000 genomes]
rs195061	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs195065	0.90[ASN][1000 genomes]
rs195067	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs195068	0.90[ASN][1000 genomes]
rs195069	0.90[ASN][1000 genomes]
rs195070	0.89[ASN][1000 genomes]
rs195072	0.87[ASN][1000 genomes]
rs195073	0.90[ASN][1000 genomes]
rs195074	0.90[ASN][1000 genomes]
rs195077	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs195082	0.90[ASN][1000 genomes]
rs195084	0.90[ASN][1000 genomes]
rs195086	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs195087	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195093	0.83[ASN][1000 genomes]
rs2066350	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2295203	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28364655	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3778110	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3798655	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945636	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4945638	0.81[ASN][1000 genomes]
rs4946416	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56095132	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66524742	0.83[ASN][1000 genomes]
rs6900388	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6903680	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925366	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6932066	0.83[ASN][1000 genomes]
rs72952933	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72952941	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7765368	0.82[AFR][1000 genomes]
rs885028	0.81[ASN][1000 genomes]
rs9372528	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9372531	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9372534	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9374784	0.83[AMR][1000 genomes]
rs9374785	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9374786	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9374789	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9374790	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9385071	0.87[AMR][1000 genomes]
rs9387645	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9387647	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9387650	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9398506	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9398507	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398508	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9398509	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9401136	0.90[AMR][1000 genomes]
rs9489650	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv1802628	chr6:119647135-119678881	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119671800-119689200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:119673400-119677200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:119673400-119678200	Weak transcription	NHDF-Ad	bronchial
4	chr6:119673400-119690000	Weak transcription	K562	blood
5	chr6:119673600-119680800	Weak transcription	Fetal Heart	heart
6	chr6:119673600-119687200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:119674400-119677600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:119674600-119677000	Enhancers	Primary B cells from peripheral blood	blood
9	chr6:119675200-119677000	Enhancers	Adipose Nuclei	Adipose
10	chr6:119675200-119677600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:119675200-119688800	Weak transcription	Brain Anterior Caudate	brain
12	chr6:119675400-119679200	Weak transcription	Dnd41	blood
13	chr6:119675600-119676800	Weak transcription	Fetal Kidney	kidney
14	chr6:119675800-119676800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:119676000-119676600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:119676000-119677000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:119676200-119676600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:119676200-119676600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr6:119676200-119676800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr6:119676400-119676600	Flanking Active TSS	GM12878-XiMat	blood
21	chr6:119676400-119676800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr6:119676400-119677000	Active TSS	Pancreatic Islets	Pancreatic Islet

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