Variant report

Variant	rs6541180
Chromosome Location	chr1:221347601-221347602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221347435..221349453-chr1:221351674..221353508,2	K562	blood:
2	chr1:221285051..221286757-chr1:221347141..221349815,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10218738	0.81[EUR][1000 genomes]
rs10218739	0.81[EUR][1000 genomes]
rs10489957	0.85[ASN][1000 genomes]
rs1073166	0.83[EUR][1000 genomes]
rs10746408	0.83[EUR][1000 genomes]
rs10779421	0.81[EUR][1000 genomes]
rs10863584	0.80[EUR][1000 genomes]
rs10863585	0.83[EUR][1000 genomes]
rs10863589	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11118650	0.81[EUR][1000 genomes]
rs11118657	0.95[EUR][1000 genomes]
rs12408324	0.85[ASN][1000 genomes]
rs1372665	0.83[EUR][1000 genomes]
rs1417921	0.85[EUR][1000 genomes]
rs1442465	0.81[EUR][1000 genomes]
rs1539139	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1867071	0.81[EUR][1000 genomes]
rs1965817	0.83[EUR][1000 genomes]
rs1992480	0.81[EUR][1000 genomes]
rs2378435	0.81[EUR][1000 genomes]
rs4518910	0.81[EUR][1000 genomes]
rs4532839	0.84[EUR][1000 genomes]
rs4846689	0.85[ASN][1000 genomes]
rs6541171	0.81[EUR][1000 genomes]
rs6541172	0.81[EUR][1000 genomes]
rs6541179	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6656408	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6656596	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs6657690	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6664595	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6669742	0.81[EUR][1000 genomes]
rs6677416	0.81[EUR][1000 genomes]
rs6678719	0.85[AMR][1000 genomes]
rs6694121	0.88[CEU][hapmap]
rs6696268	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7513152	0.81[EUR][1000 genomes]
rs7527151	0.81[EUR][1000 genomes]
rs7527891	0.81[EUR][1000 genomes]
rs7545437	0.81[EUR][1000 genomes]
rs894361	0.81[EUR][1000 genomes]
rs9431421	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9431432	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9431436	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs989463	0.83[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221345400-221351000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:221346000-221348600	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:221346000-221349000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:221346400-221350800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:221346800-221348000	Weak transcription	Pancreas	Pancrea
6	chr1:221347400-221348600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:221347400-221349200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:221347600-221348600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:221347600-221348600	Enhancers	Monocytes-CD14+_RO01746	blood

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