Variant report

Variant	rs1295392
Chromosome Location	chr6:119676177-119676178
allele	G/T
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: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12209570	0.87[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap]
rs1295386	0.90[LWK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs1295391	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs195048	0.80[ASN][1000 genomes]
rs195056	0.90[ASN][1000 genomes]
rs195058	0.90[ASN][1000 genomes]
rs195090	0.80[ASN][1000 genomes]
rs195092	0.86[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2299878	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs2357164	0.81[YRI][hapmap]
rs3778111	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.84[MKK][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4946406	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap]
rs6569074	0.91[YRI][hapmap]
rs6569075	0.87[AFR][1000 genomes]
rs6921356	0.81[AFR][1000 genomes]
rs6937640	0.99[ASN][1000 genomes]
rs7773367	0.80[AFR][1000 genomes]
rs9374788	0.98[ASN][1000 genomes]
rs9489638	0.86[CHB][hapmap];0.81[JPT][hapmap]

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	chr6:119672400-119676200	Enhancers	Primary B cells from cord blood	blood
3	chr6:119673400-119676200	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:119673400-119677200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:119673400-119678200	Weak transcription	NHDF-Ad	bronchial
6	chr6:119673400-119690000	Weak transcription	K562	blood
7	chr6:119673600-119680800	Weak transcription	Fetal Heart	heart
8	chr6:119673600-119687200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:119674400-119677600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:119674600-119677000	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:119674800-119676400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:119675200-119677000	Enhancers	Adipose Nuclei	Adipose
13	chr6:119675200-119677600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:119675200-119688800	Weak transcription	Brain Anterior Caudate	brain
15	chr6:119675400-119679200	Weak transcription	Dnd41	blood
16	chr6:119675600-119676800	Weak transcription	Fetal Kidney	kidney
17	chr6:119675800-119676800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr6:119676000-119676200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:119676000-119676200	Flanking Active TSS	GM12878-XiMat	blood
20	chr6:119676000-119676200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr6:119676000-119676600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:119676000-119677000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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