Variant report

Variant	rs821733
Chromosome Location	chr5:111668481-111668482
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1004383	0.94[ASN][1000 genomes]
rs1004385	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10052915	0.89[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1019743	0.88[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs1019744	0.88[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs10214321	0.80[CEU][hapmap]
rs11743178	0.82[CHB][hapmap]
rs12519600	0.88[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs1474360	0.88[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs1962305	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs1975017	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2042884	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2140625	0.90[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2140626	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs2416283	0.89[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2416284	0.89[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2839826	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs366217	0.87[ASN][1000 genomes]
rs366951	0.87[ASN][1000 genomes]
rs367807	0.88[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs368032	0.90[CEU][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs370640	0.87[ASN][1000 genomes]
rs373303	0.90[ASN][1000 genomes]
rs373583	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs376395	0.93[ASN][1000 genomes]
rs378791	0.85[ASN][1000 genomes]
rs382482	0.87[ASN][1000 genomes]
rs387117	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs388091	0.88[ASN][1000 genomes]
rs393096	0.83[ASN][1000 genomes]
rs406359	0.86[ASN][1000 genomes]
rs406444	0.93[ASN][1000 genomes]
rs408076	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs408127	0.86[ASN][1000 genomes]
rs424998	0.93[ASN][1000 genomes]
rs429580	0.89[ASN][1000 genomes]
rs440759	0.89[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs441563	0.90[ASN][1000 genomes]
rs442777	0.88[ASN][1000 genomes]
rs442947	0.87[ASN][1000 genomes]
rs443024	0.94[ASN][1000 genomes]
rs447144	0.93[ASN][1000 genomes]
rs4479888	0.89[ASN][1000 genomes]
rs454794	0.92[ASN][1000 genomes]
rs4958040	0.94[ASN][1000 genomes]
rs4958043	0.84[JPT][hapmap]
rs6594591	0.89[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6861186	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6872155	0.86[ASN][1000 genomes]
rs6877695	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7711318	0.94[ASN][1000 genomes]
rs7720180	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7720546	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7731169	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs821734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821735	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821745	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs821747	1.00[CEU][hapmap];0.87[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs987764	0.94[ASN][1000 genomes]
rs987765	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv462386	chr5:111667572-111699317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv599372	chr5:111667572-111699317	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111653200-111674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:111659200-111668800	Weak transcription	Pancreas	Pancrea
4	chr5:111661400-111669000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:111664200-111669000	Enhancers	Fetal Heart	heart
6	chr5:111665400-111668800	Enhancers	HUVEC	blood vessel
7	chr5:111665400-111670600	Weak transcription	Hela-S3	cervix
8	chr5:111665400-111674600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:111665600-111668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:111665600-111668600	Weak transcription	Fetal Brain Female	brain
11	chr5:111665600-111668800	Weak transcription	Fetal Lung	lung
12	chr5:111665600-111669000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:111665600-111669000	Weak transcription	Fetal Kidney	kidney
14	chr5:111665600-111669200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:111665600-111674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:111665800-111668800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:111665800-111668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:111665800-111669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:111666000-111668600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:111666000-111668600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:111666000-111669000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:111666000-111669800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:111666200-111668600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:111666400-111668800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:111667000-111668600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:111667200-111669800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:111667200-111674000	Weak transcription	Esophagus	oesophagus
28	chr5:111667400-111668600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:111667600-111668800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:111667600-111668800	Weak transcription	Lung	lung
31	chr5:111667600-111668800	Weak transcription	Right Ventricle	heart
32	chr5:111667600-111669000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:111667600-111669000	Weak transcription	Psoas Muscle	Psoas
34	chr5:111667600-111669000	Weak transcription	Spleen	Spleen
35	chr5:111667600-111671200	Weak transcription	Gastric	stomach
36	chr5:111667800-111668800	Weak transcription	Adipose Nuclei	Adipose
37	chr5:111667800-111668800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:111667800-111668800	Weak transcription	Left Ventricle	heart
39	chr5:111667800-111668800	Weak transcription	Right Atrium	heart
40	chr5:111668000-111669000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:111668400-111669400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:111668400-111669800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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