Variant report

Variant	rs2884713
Chromosome Location	chr16:31724836-31724837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10871458	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11150638	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1156903	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11644104	0.94[CEU][hapmap]
rs12324951	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12447780	0.82[ASN][1000 genomes]
rs12716999	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12717000	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1406177	0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1406178	0.84[MEX][hapmap]
rs1468158	0.84[MEX][hapmap]
rs1468159	0.84[MEX][hapmap]
rs1528317	0.84[MEX][hapmap]
rs1528319	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1534507	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1852666	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1881316	0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1881318	0.80[MEX][hapmap]
rs1919040	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1919042	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2078924	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2106579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2106581	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2157970	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178179	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2188619	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2222754	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2359219	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2359222	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2359226	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2359455	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28427454	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3751742	0.84[MEX][hapmap]
rs4620975	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4889553	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4889555	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4889688	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889689	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4889693	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62054710	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6565267	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6565269	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6565275	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6565278	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6565280	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6565282	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6565285	0.93[CEU][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6565286	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6565287	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67922432	0.86[AMR][1000 genomes]
rs7188627	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7190730	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7191481	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7197963	0.84[MEX][hapmap]
rs7206536	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs727349	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8048591	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs8049323	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8053712	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8060086	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8062424	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8062902	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs916753	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs929208	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9921546	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9921898	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9928006	0.94[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9929892	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9930700	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9936002	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9938037	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1057598	chr16:31608831-31726446	Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2884713	CD2BP2	cis	parietal	SCAN
rs2884713	CLUHP3	cis	Whole Blood	GTEx
rs2884713	PRR14	cis	parietal	SCAN
rs2884713	TBX6	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31724000-31725200	Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr16:31724000-31725400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr16:31724000-31725600	Active TSS	Brain Cingulate Gyrus	brain
4	chr16:31724000-31725800	Active TSS	Stomach Smooth Muscle	stomach
5	chr16:31724200-31725000	Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr16:31724200-31725200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:31724200-31725200	Active TSS	Primary B cells from cord blood	blood
8	chr16:31724200-31725200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:31724200-31725200	Active TSS	Monocytes-CD14+_RO01746	blood
10	chr16:31724200-31725400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr16:31724200-31725400	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr16:31724200-31725400	Active TSS	Fetal Brain Female	brain
13	chr16:31724200-31725400	Active TSS	Rectal Smooth Muscle	rectum
14	chr16:31724200-31725400	Active TSS	Hela-S3	cervix
15	chr16:31724200-31725400	Active TSS	HUVEC	blood vessel
16	chr16:31724200-31725400	Active TSS	NHLF	lung
17	chr16:31724200-31725600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:31724200-31725600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:31724200-31725600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:31724200-31725600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:31724200-31725600	Active TSS	Brain Substantia Nigra	brain
22	chr16:31724200-31725600	Active TSS	Colon Smooth Muscle	Colon
23	chr16:31724200-31725600	Active TSS	Fetal Intestine Large	intestine
24	chr16:31724200-31725600	Active TSS	Fetal Intestine Small	intestine
25	chr16:31724200-31725600	Active TSS	Fetal Muscle Trunk	muscle
26	chr16:31724200-31725600	Active TSS	Left Ventricle	heart
27	chr16:31724200-31725600	Active TSS	Ovary	ovary
28	chr16:31724200-31725600	Active TSS	Psoas Muscle	Psoas
29	chr16:31724200-31725600	Active TSS	Right Ventricle	heart
30	chr16:31724200-31725600	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr16:31724200-31725600	Active TSS	HMEC	breast
32	chr16:31724200-31725600	Active TSS	HSMM	muscle
33	chr16:31724200-31725600	Active TSS	HSMMtube	muscle
34	chr16:31724200-31725600	Active TSS	NHDF-Ad	bronchial
35	chr16:31724200-31725800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:31724200-31725800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:31724200-31725800	Active TSS	Colonic Mucosa	Colon
38	chr16:31724200-31725800	Active TSS	Fetal Kidney	kidney
39	chr16:31724200-31726000	Active TSS	A549	lung
40	chr16:31724200-31726200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr16:31724200-31726400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:31724400-31725000	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr16:31724400-31725000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:31724400-31725000	Weak transcription	Fetal Heart	heart
45	chr16:31724400-31725000	Active TSS	Thymus	Thymus
46	chr16:31724400-31725200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:31724400-31725200	Active TSS	Primary B cells from peripheral blood	blood
48	chr16:31724400-31725200	Active TSS	Primary T cells from cord blood	blood
49	chr16:31724400-31725200	Active TSS	Primary hematopoietic stem cells	blood
50	chr16:31724400-31725200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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