Variant report

Variant	rs7546327
Chromosome Location	chr1:171973914-171973915
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	chr1:171972033..171974516-chr1:172324931..172327450,2	MCF-7	breast:
2	chr1:171971874..171974567-chr1:172398911..172400668,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10158884	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1073940	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910863	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10910881	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10910891	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11581104	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12073819	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12077603	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12088862	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12090753	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091784	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403863	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12407436	0.85[ASN][1000 genomes]
rs12408359	0.82[EUR][1000 genomes]
rs16843679	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16843681	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2208371	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2421950	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3736790	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4399191	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55682753	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55780414	0.96[ASN][1000 genomes]
rs57907095	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59316397	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6662250	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6667114	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668552	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6668677	0.82[EUR][1000 genomes]
rs6672365	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6680084	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6684633	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6702539	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73037351	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7525638	0.86[AMR][1000 genomes];0.82[EUR][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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171949000-171976000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:171968600-171975000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:171969400-171974600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:171969600-171974600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:171972200-171974200	Enhancers	Brain Substantia Nigra	brain
6	chr1:171972600-171974000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:171972600-171975200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:171972800-171974000	Enhancers	Fetal Lung	lung
9	chr1:171972800-171974200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:171972800-171974200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:171972800-171974200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:171972800-171976800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:171973000-171974000	Enhancers	HUVEC	blood vessel
14	chr1:171973000-171974400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:171973000-171976000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:171973000-171976200	Enhancers	HMEC	breast
17	chr1:171973200-171974000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:171973200-171974000	Enhancers	Brain Angular Gyrus	brain
19	chr1:171973200-171974000	Enhancers	Fetal Stomach	stomach
20	chr1:171973200-171975400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:171973400-171974000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:171973400-171974600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:171973400-171976600	Enhancers	Brain Hippocampus Middle	brain
24	chr1:171973600-171974400	Enhancers	Fetal Brain Male	brain
25	chr1:171973600-171975400	Enhancers	NHDF-Ad	bronchial
26	chr1:171973600-171979000	Weak transcription	NH-A	brain
27	chr1:171973800-171974800	Weak transcription	Fetal Kidney	kidney
28	chr1:171973800-171974800	Weak transcription	NHEK	skin
29	chr1:171973800-171975000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:171973800-171975000	Weak transcription	A549	lung
31	chr1:171973800-171975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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