Variant report

Variant	rs7217543
Chromosome Location	chr17:67058953-67058954
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	chr17:67056217..67058321-chr17:67058531..67061297,2	K562	blood:
2	chr17:67054448..67056090-chr17:67057770..67060664,2	K562	blood:

Variant related genes	Relation type
ENSG00000154258	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10512523	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs1076401	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11077858	0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs11077859	0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs11077860	0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs11077884	0.80[CEU][hapmap]
rs11077922	0.81[JPT][hapmap]
rs11453	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs11657541	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11659114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11871766	0.84[CEU][hapmap];0.95[CHB][hapmap]
rs11871944	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12325889	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs1541470	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs16973495	0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs2079808	0.87[ASN][1000 genomes]
rs2302291	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2302292	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2302293	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2302294	0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs4968983	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs4968993	0.99[ASN][1000 genomes]
rs62082714	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6501947	0.90[CHB][hapmap]
rs71357712	0.81[ASN][1000 genomes]
rs7207125	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs7215642	0.95[CHB][hapmap]
rs7218871	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs8066758	0.95[CHB][hapmap]
rs8067578	0.98[ASN][1000 genomes]
rs8068236	0.95[CHB][hapmap]
rs8070285	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9789039	0.81[ASN][1000 genomes]
rs9789083	0.86[JPT][hapmap]
rs9902602	0.94[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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67041400-67072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr17:67053800-67066800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr17:67056200-67075200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr17:67057000-67062400	Weak transcription	Fetal Muscle Leg	muscle
5	chr17:67057400-67060200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:67057800-67059800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:67057800-67077600	Weak transcription	Fetal Brain Male	brain
8	chr17:67058000-67059200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr17:67058000-67059400	Weak transcription	Brain Substantia Nigra	brain
10	chr17:67058000-67060000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:67058000-67060200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:67058200-67059200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:67058200-67059200	Weak transcription	Adipose Nuclei	Adipose
14	chr17:67058200-67059400	Weak transcription	Brain Hippocampus Middle	brain
15	chr17:67058200-67062600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr17:67058200-67063000	Weak transcription	Fetal Kidney	kidney
17	chr17:67058200-67065400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:67058200-67065400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr17:67058200-67066600	Weak transcription	Fetal Lung	lung
20	chr17:67058400-67071600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:67058600-67059000	Weak transcription	Liver	Liver
22	chr17:67058600-67059400	Enhancers	Ovary	ovary
23	chr17:67058600-67060400	Weak transcription	K562	blood
24	chr17:67058600-67060400	Weak transcription	NHDF-Ad	bronchial
25	chr17:67058800-67065400	Enhancers	Primary monocytes fromperipheralblood	blood

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