Variant report

Variant	rs11948777
Chromosome Location	chr5:16992580-16992581
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10070446	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10074279	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133869	0.95[ASN][1000 genomes]
rs11749259	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949513	0.94[ASN][1000 genomes]
rs11949968	0.88[ASN][1000 genomes]
rs11952906	0.90[ASN][1000 genomes]
rs11959127	0.95[ASN][1000 genomes]
rs12656631	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13180256	0.94[ASN][1000 genomes]
rs13181713	0.90[ASN][1000 genomes]
rs1806622	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909726	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2402337	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35525756	0.94[ASN][1000 genomes]
rs4129967	0.95[ASN][1000 genomes]
rs4360041	0.90[ASN][1000 genomes]
rs4370273	0.88[ASN][1000 genomes]
rs4701673	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4701674	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4701675	0.88[ASN][1000 genomes]
rs4701676	0.86[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs4701677	0.88[ASN][1000 genomes]
rs4702184	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4702187	0.95[ASN][1000 genomes]
rs58370320	0.89[ASN][1000 genomes]
rs62369738	0.92[ASN][1000 genomes]
rs62369739	0.94[ASN][1000 genomes]
rs6873589	0.90[ASN][1000 genomes]
rs6875279	0.88[ASN][1000 genomes]
rs6877901	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7709189	0.95[ASN][1000 genomes]
rs7714749	0.93[ASN][1000 genomes]
rs7727270	0.93[ASN][1000 genomes]
rs7732829	0.93[ASN][1000 genomes]
rs7733016	0.91[ASN][1000 genomes]
rs7734046	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954604	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3510797	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3510798	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1795984	chr5:16973769-17078295	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv597311	chr5:16980857-17012775	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1793716	chr5:16989318-17019351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16981600-16994200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:16988200-16994600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:16990800-16994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:16991200-16993600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:16991600-16993600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:16991800-16992600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:16991800-16992800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:16992000-16992600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:16992000-16992800	Enhancers	NHEK	skin
10	chr5:16992000-16993000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:16992000-16993000	Enhancers	HMEC	breast
12	chr5:16992000-16993000	Enhancers	HSMM	muscle
13	chr5:16992000-16995200	Enhancers	HUVEC	blood vessel
14	chr5:16992200-16992600	Enhancers	Primary T cells from cord blood	blood
15	chr5:16992200-16992600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:16992200-16992800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:16992200-16992800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:16992200-16992800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:16992200-16992800	Enhancers	A549	lung
20	chr5:16992200-16992800	Enhancers	HSMMtube	muscle
21	chr5:16992200-16993000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:16992400-16992600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:16992400-16992600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr5:16992400-16992600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:16992400-16992600	Enhancers	Osteobl	bone
26	chr5:16992400-16992800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:16992400-16992800	Flanking Active TSS	NH-A	brain
28	chr5:16992400-16992800	Flanking Active TSS	NHDF-Ad	bronchial

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