Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16932624..16935111-chr21:16937107..16938655,2	K562	blood:
2	chr21:16931419..16933182-chr21:16935241..16937836,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2064049	0.81[EUR][1000 genomes]
rs2064050	0.81[EUR][1000 genomes]
rs2064051	0.81[EUR][1000 genomes]
rs2065236	0.81[EUR][1000 genomes]
rs2065237	0.83[EUR][1000 genomes]
rs2142485	0.82[EUR][1000 genomes]
rs2242842	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242843	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs2242844	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2242845	0.84[EUR][1000 genomes]
rs2823375	0.98[EUR][1000 genomes]
rs2823376	0.98[EUR][1000 genomes]
rs2823379	0.81[EUR][1000 genomes]
rs6517486	0.98[EUR][1000 genomes]
rs6517488	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6517490	1.00[CEU][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs6517495	0.81[EUR][1000 genomes]
rs6517496	0.81[EUR][1000 genomes]
rs6517497	0.81[EUR][1000 genomes]
rs7279322	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7279355	0.81[EUR][1000 genomes]
rs7282804	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs8134968	0.86[EUR][1000 genomes]
rs9975051	0.96[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	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1064621	chr21:16881027-16937290	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2758530	chr21:16912646-17096678	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2758810	chr21:16912646-17096678	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8129285	BTG3	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16932000-16933200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr21:16932000-16934400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr21:16932200-16933800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr21:16932200-16934000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr21:16932200-16934400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr21:16932600-16933400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:16932600-16936600	Weak transcription	Fetal Intestine Large	intestine
8	chr21:16932800-16933400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:16932800-16933400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:16932800-16933600	Enhancers	HSMMtube	muscle
11	chr21:16932800-16934000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr21:16933000-16933200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr21:16933000-16933400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:16933000-16937200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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