Variant report

Variant	rs1137143
Chromosome Location	chr16:47464047-47464048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11247408	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11863453	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1200995	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12922960	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12931879	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13332786	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13335733	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs174642	0.84[AMR][1000 genomes]
rs35183491	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35514741	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3809676	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1060396	chr16:47264261-47469345	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv428656	chr16:47316866-47469918	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv833217	chr16:47358148-47527655	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47426400-47482800	Weak transcription	NH-A	brain
2	chr16:47430400-47485600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:47431600-47478200	Weak transcription	K562	blood
4	chr16:47431800-47470000	Weak transcription	Psoas Muscle	Psoas
5	chr16:47442600-47483800	Weak transcription	Hela-S3	cervix
6	chr16:47445400-47482600	Weak transcription	NHEK	skin
7	chr16:47445800-47483800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:47447800-47471800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:47451600-47484000	Weak transcription	Small Intestine	intestine
10	chr16:47452800-47465000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr16:47458000-47464200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:47458400-47464400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr16:47458600-47464200	Strong transcription	Primary T cells from cord blood	blood
14	chr16:47459200-47493400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:47459400-47465200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr16:47459400-47466000	Weak transcription	Brain Anterior Caudate	brain
17	chr16:47459400-47466000	Weak transcription	Brain Substantia Nigra	brain
18	chr16:47459400-47484000	Weak transcription	Pancreas	Pancrea
19	chr16:47459400-47487200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr16:47459400-47493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:47459600-47471600	Weak transcription	Fetal Intestine Small	intestine
22	chr16:47459600-47487200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:47459600-47493400	Weak transcription	Esophagus	oesophagus
24	chr16:47459800-47471600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:47459800-47484600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr16:47459800-47484800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:47459800-47493400	Weak transcription	Right Ventricle	heart
28	chr16:47459800-47494400	Weak transcription	Aorta	Aorta
29	chr16:47460000-47466000	Weak transcription	Brain Angular Gyrus	brain
30	chr16:47460000-47485400	Weak transcription	HSMMtube	muscle
31	chr16:47460200-47466000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr16:47460200-47469400	Weak transcription	Fetal Thymus	thymus
33	chr16:47460200-47471600	Weak transcription	GM12878-XiMat	blood
34	chr16:47460200-47479600	Weak transcription	Ovary	ovary
35	chr16:47460200-47482600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr16:47460200-47482800	Weak transcription	Brain Germinal Matrix	brain
37	chr16:47460200-47483800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:47460200-47485600	Weak transcription	Colonic Mucosa	Colon
39	chr16:47460200-47485600	Weak transcription	NHLF	lung
40	chr16:47460200-47486800	Weak transcription	Fetal Kidney	kidney
41	chr16:47460400-47479400	Weak transcription	HepG2	liver
42	chr16:47460400-47483400	Weak transcription	Fetal Brain Male	brain
43	chr16:47461400-47482800	Weak transcription	A549	lung
44	chr16:47461600-47485600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr16:47461800-47485400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:47462000-47465200	Weak transcription	Fetal Stomach	stomach
47	chr16:47462000-47466000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr16:47462000-47471000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:47462000-47471200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:47462000-47471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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