Variant report

No.	Distal block	Cell Line	Cell type
1	chr21:16907370..16908917-chr21:16935643..16937758,2	K562	blood:
2	chr21:16932624..16935111-chr21:16937107..16938655,2	K562	blood:
3	chr21:16931419..16933182-chr21:16935241..16937836,2	MCF-7	breast:
4	chr21:16436298..16438931-chr21:16935444..16937657,2	MCF-7	breast:
5	chr21:16936242..16938072-chr21:16938632..16941243,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

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

rs_ID	r²[population]
rs2064049	0.94[EUR][1000 genomes]
rs2064050	0.94[EUR][1000 genomes]
rs2064051	0.94[EUR][1000 genomes]
rs2065236	0.94[EUR][1000 genomes]
rs2065237	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2142485	0.95[EUR][1000 genomes]
rs2242843	0.87[EUR][1000 genomes]
rs2242844	0.87[EUR][1000 genomes]
rs2823375	0.82[EUR][1000 genomes]
rs2823376	0.86[EUR][1000 genomes]
rs2823379	0.94[EUR][1000 genomes]
rs2823380	0.90[EUR][1000 genomes]
rs6517486	0.82[EUR][1000 genomes]
rs6517488	0.87[EUR][1000 genomes]
rs6517490	0.86[EUR][1000 genomes]
rs6517495	0.94[EUR][1000 genomes]
rs6517496	0.94[EUR][1000 genomes]
rs6517497	0.94[EUR][1000 genomes]
rs7279322	0.87[EUR][1000 genomes]
rs7279355	0.94[EUR][1000 genomes]
rs7282804	0.87[EUR][1000 genomes]
rs8129285	0.84[EUR][1000 genomes]
rs8134968	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs9975051	0.87[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	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
3	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
4	nsv528246	chr21:16935888-16980039	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16936600-16937800	Enhancers	Fetal Intestine Large	intestine
2	chr21:16936600-16937800	Enhancers	Fetal Intestine Small	intestine
3	chr21:16936800-16937400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr21:16936800-16937400	Enhancers	Stomach Mucosa	stomach
5	chr21:16936800-16937600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr21:16937200-16937600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:16937200-16937600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr21:16937200-16937600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr21:16937200-16937600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:16937200-16937800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr21:16937200-16937800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr21:16937200-16937800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr21:16937200-16938000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr21:16937200-16939800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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