Variant report

Variant	rs8052243
Chromosome Location	chr16:47467821-47467822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11862281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap]
rs11863178	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs11865790	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs13330699	0.81[AFR][1000 genomes]
rs13330832	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs13332058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs13332800	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap]
rs13332953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap]
rs13334342	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.96[YRI][hapmap]
rs13339406	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs16945353	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs16945357	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs16945358	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16945372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs16945386	1.00[CHB][hapmap]
rs16945408	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs16945413	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs16945438	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs16945443	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs16954067	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs2062968	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap]
rs28597108	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs7185641	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs7185915	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs7194190	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7199958	1.00[CEU][hapmap]
rs7204944	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs8053323	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs9328591	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs9922569	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs9927084	1.00[CEU][hapmap]
rs9932230	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs9935427	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs9936434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap]

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:104 , 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	chr16:47459200-47493400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:47459400-47484000	Weak transcription	Pancreas	Pancrea
12	chr16:47459400-47487200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:47459400-47493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:47459600-47471600	Weak transcription	Fetal Intestine Small	intestine
15	chr16:47459600-47487200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr16:47459600-47493400	Weak transcription	Esophagus	oesophagus
17	chr16:47459800-47471600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:47459800-47484600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr16:47459800-47484800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:47459800-47493400	Weak transcription	Right Ventricle	heart
21	chr16:47459800-47494400	Weak transcription	Aorta	Aorta
22	chr16:47460000-47485400	Weak transcription	HSMMtube	muscle
23	chr16:47460200-47469400	Weak transcription	Fetal Thymus	thymus
24	chr16:47460200-47471600	Weak transcription	GM12878-XiMat	blood
25	chr16:47460200-47479600	Weak transcription	Ovary	ovary
26	chr16:47460200-47482600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr16:47460200-47482800	Weak transcription	Brain Germinal Matrix	brain
28	chr16:47460200-47483800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:47460200-47485600	Weak transcription	Colonic Mucosa	Colon
30	chr16:47460200-47485600	Weak transcription	NHLF	lung
31	chr16:47460200-47486800	Weak transcription	Fetal Kidney	kidney
32	chr16:47460400-47479400	Weak transcription	HepG2	liver
33	chr16:47460400-47483400	Weak transcription	Fetal Brain Male	brain
34	chr16:47461400-47482800	Weak transcription	A549	lung
35	chr16:47461600-47485600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr16:47461800-47485400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr16:47462000-47471000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr16:47462000-47471200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:47462000-47471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:47462000-47471200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:47462000-47471600	Weak transcription	Lung	lung
42	chr16:47462000-47471800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:47462000-47477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr16:47462000-47479400	Weak transcription	Fetal Intestine Large	intestine
45	chr16:47462000-47479600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr16:47462000-47479600	Weak transcription	Adipose Nuclei	Adipose
47	chr16:47462000-47479600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:47462000-47479800	Weak transcription	Brain Hippocampus Middle	brain
49	chr16:47462000-47480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:47462000-47482600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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