Variant report

Variant	rs55715339
Chromosome Location	chr21:16621163-16621164
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16609680..16611486-chr21:16620400..16623388,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12152049	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2823187	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823190	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2823191	0.86[ASN][1000 genomes]
rs2823193	0.86[EUR][1000 genomes]
rs2823194	0.85[EUR][1000 genomes]
rs2823201	0.84[EUR][1000 genomes]
rs2823203	0.82[EUR][1000 genomes]
rs34759635	0.81[EUR][1000 genomes]
rs9647071	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv913413	chr21:16537728-16621859	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1811376	chr21:16600040-16623356	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16613200-16624000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr21:16616200-16626200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:16617200-16624000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:16618800-16623400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:16619000-16622200	Weak transcription	Osteobl	bone
6	chr21:16619400-16621200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr21:16619800-16621400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:16619800-16622000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:16620000-16621800	Weak transcription	NH-A	brain
10	chr21:16620000-16622000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:16620000-16622200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:16620000-16623800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:16620000-16624000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:16620000-16624200	Weak transcription	Colon Smooth Muscle	Colon
15	chr21:16620600-16623800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:16620800-16623800	Enhancers	NHEK	skin
17	chr21:16620800-16624200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr21:16620800-16624200	Enhancers	HMEC	breast
19	chr21:16621000-16621200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:16621000-16621400	Enhancers	HSMMtube	muscle
21	chr21:16621000-16622200	Enhancers	HSMM	muscle
22	chr21:16621000-16622400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr21:16621000-16623800	Enhancers	K562	blood
24	chr21:16621000-16628200	Weak transcription	HepG2	liver

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