Variant report

Variant	rs7721079
Chromosome Location	chr5:5314703-5314704
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:5314409..5317868-chr5:5331768..5333850,3	MCF-7	breast:
2	chr5:5311464..5313374-chr5:5314476..5316464,2	K562	blood:
3	chr5:5311464..5314031-chr5:5314476..5317424,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11134110	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs11745231	0.91[CEU][hapmap]
rs12518998	0.86[CHB][hapmap]
rs4478286	0.86[CHB][hapmap]
rs6555349	0.86[CHB][hapmap]
rs7701192	0.86[CHB][hapmap]
rs7704982	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7721079	ADAMTS16	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5305600-5314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:5305600-5319400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:5305600-5326200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:5305800-5321400	Weak transcription	Fetal Kidney	kidney
5	chr5:5307800-5318000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:5308200-5318000	Weak transcription	Fetal Brain Male	brain
7	chr5:5311400-5324800	Weak transcription	Ovary	ovary
8	chr5:5312200-5320000	Enhancers	Fetal Muscle Leg	muscle
9	chr5:5312800-5317200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:5313400-5318200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:5313600-5315600	Weak transcription	Fetal Lung	lung
12	chr5:5313800-5315600	Weak transcription	Osteobl	bone
13	chr5:5313800-5316200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:5313800-5317400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:5313800-5319400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:5314000-5314800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:5314000-5316200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:5314000-5318000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:5314400-5315600	Weak transcription	Psoas Muscle	Psoas
20	chr5:5314400-5315600	Weak transcription	HSMMtube	muscle
21	chr5:5314400-5315600	Weak transcription	NH-A	brain
22	chr5:5314400-5315800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:5314400-5316400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:5314400-5318600	Weak transcription	Pancreas	Pancrea
25	chr5:5314400-5319000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr5:5314400-5326200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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