Variant report

Variant	rs11720016
Chromosome Location	chr3:59794977-59794978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12494457	0.98[ASN][1000 genomes]
rs12634148	0.84[ASN][1000 genomes]
rs13434180	0.98[ASN][1000 genomes]
rs2251216	0.90[ASN][1000 genomes]
rs2629877	0.93[ASN][1000 genomes]
rs3100803	0.99[ASN][1000 genomes]
rs3112505	0.99[ASN][1000 genomes]
rs4679507	0.81[ASN][1000 genomes]
rs497767	0.87[ASN][1000 genomes]
rs505780	0.95[ASN][1000 genomes]
rs534185	0.94[ASN][1000 genomes]
rs590581	0.81[ASN][1000 genomes]
rs591947	0.90[ASN][1000 genomes]
rs605545	0.90[ASN][1000 genomes]
rs9846213	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014601	chr3:59666609-59888166	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1003387	chr3:59756364-59831340	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv460562	chr3:59760118-59826778	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv590381	chr3:59760118-59826778	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv460563	chr3:59772342-59827390	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv590383	chr3:59772342-59827390	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59770400-59825200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:59778200-59811200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr3:59787000-59795800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr3:59787200-59802000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr3:59788400-59797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:59788800-59795400	Weak transcription	Dnd41	blood
7	chr3:59789400-59795000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:59789400-59796800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:59789400-59797600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:59789400-59797600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:59789800-59797800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:59789800-59798000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:59791400-59797800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:59793000-59799600	Enhancers	Brain Germinal Matrix	brain
15	chr3:59793600-59795800	Weak transcription	Primary T cells from cord blood	blood
16	chr3:59794000-59796800	Enhancers	Fetal Stomach	stomach
17	chr3:59794000-59797000	Enhancers	Fetal Thymus	thymus
18	chr3:59794000-59798400	Enhancers	Fetal Muscle Leg	muscle
19	chr3:59794200-59795600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:59794200-59796000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:59794200-59798200	Enhancers	HSMMtube	muscle
22	chr3:59794200-59800800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:59794400-59795600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:59794400-59795800	Weak transcription	Fetal Kidney	kidney
25	chr3:59794400-59796000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:59794600-59795600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:59794600-59795600	Enhancers	NH-A	brain
28	chr3:59794600-59795600	Enhancers	Osteobl	bone
29	chr3:59794800-59795000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:59794800-59795000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:59794800-59795200	Enhancers	NHDF-Ad	bronchial
32	chr3:59794800-59796000	Enhancers	Brain Hippocampus Middle	brain

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