Variant report

Variant	rs17077547
Chromosome Location	chr8:6427514-6427515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6280960..6282945-chr8:6426818..6429637,2	K562	blood:
2	chr8:6426332..6429176-chr8:6564535..6567216,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155189	Chromatin interaction
ENSG00000249898	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10103026	0.85[EUR][1000 genomes]
rs10481362	0.92[EUR][1000 genomes]
rs1562714	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs1562715	1.00[CEU][hapmap]
rs2012093	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs28539969	0.85[EUR][1000 genomes]
rs2922808	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2922864	0.85[EUR][1000 genomes]
rs2922865	0.92[EUR][1000 genomes]
rs2922884	0.85[EUR][1000 genomes]
rs2922888	0.92[EUR][1000 genomes]
rs2922890	0.85[EUR][1000 genomes]
rs2922893	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs2922894	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs2959763	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2959764	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2959765	0.85[EUR][1000 genomes]
rs2959767	0.85[EUR][1000 genomes]
rs2959771	1.00[EUR][1000 genomes]
rs3020227	0.85[EUR][1000 genomes]
rs3020230	0.85[EUR][1000 genomes]
rs3020231	0.85[EUR][1000 genomes]
rs3020232	0.85[EUR][1000 genomes]
rs3020233	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs3020234	0.85[EUR][1000 genomes]
rs3020235	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs3020236	0.85[EUR][1000 genomes]
rs59363486	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981002	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs6991221	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs7004238	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs73509235	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73661410	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820827	1.00[CEU][hapmap]
rs9314604	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:6416800-6442400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:6417600-6442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:6419000-6462400	Weak transcription	GM12878-XiMat	blood
5	chr8:6420800-6427600	Weak transcription	NHDF-Ad	bronchial
6	chr8:6420800-6429800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:6420800-6433200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:6421000-6427800	Weak transcription	Aorta	Aorta
9	chr8:6421000-6427800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:6421000-6435400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:6421200-6436200	Weak transcription	Right Atrium	heart
12	chr8:6421400-6433200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:6421600-6462800	Weak transcription	Primary B cells from cord blood	blood
14	chr8:6424200-6442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:6424400-6434400	Weak transcription	Lung	lung
16	chr8:6424400-6442800	Weak transcription	NHEK	skin
17	chr8:6424600-6433400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:6424800-6427600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:6424800-6430200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:6424800-6436600	Weak transcription	Esophagus	oesophagus
21	chr8:6424800-6440600	Weak transcription	Primary T cells from cord blood	blood
22	chr8:6424800-6442200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:6424800-6442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:6424800-6451600	Weak transcription	Spleen	Spleen
25	chr8:6425000-6432800	Weak transcription	Pancreas	Pancrea
26	chr8:6425200-6429000	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:6425200-6430200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:6425400-6428400	Enhancers	Fetal Stomach	stomach
29	chr8:6425600-6427800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:6425800-6430400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr8:6426000-6428200	Enhancers	Fetal Muscle Leg	muscle
32	chr8:6426200-6433200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:6426400-6428200	Enhancers	Fetal Thymus	thymus
34	chr8:6426400-6433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:6426400-6442800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:6426600-6442800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:6426800-6427800	Enhancers	HUVEC	blood vessel
38	chr8:6426800-6428200	Enhancers	Fetal Brain Female	brain
39	chr8:6426800-6428800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:6427000-6427600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr8:6427000-6427800	Enhancers	Adipose Nuclei	Adipose
42	chr8:6427000-6428200	Enhancers	Fetal Brain Male	brain
43	chr8:6427000-6428200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:6427200-6427600	Enhancers	Psoas Muscle	Psoas
45	chr8:6427200-6427600	Enhancers	K562	blood
46	chr8:6427200-6428200	Enhancers	Primary B cells from peripheral blood	blood
47	chr8:6427400-6427600	Enhancers	Ovary	ovary
48	chr8:6427400-6428200	Enhancers	Fetal Kidney	kidney
49	chr8:6427400-6428200	Enhancers	Left Ventricle	heart
50	chr8:6427400-6428200	Enhancers	Thymus	Thymus

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