Variant report

Variant	rs16944454
Chromosome Location	chr16:82169264-82169265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs13337888	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956466	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956540	0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956562	0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637993	1.00[EUR][1000 genomes]
rs57109607	1.00[EUR][1000 genomes]
rs58555653	1.00[EUR][1000 genomes]
rs58709236	0.86[AFR][1000 genomes]
rs58852226	1.00[EUR][1000 genomes]
rs59651447	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59902565	1.00[EUR][1000 genomes]
rs60263276	1.00[EUR][1000 genomes]
rs6564969	1.00[EUR][1000 genomes]
rs6564970	1.00[EUR][1000 genomes]
rs6564985	1.00[MEX][hapmap]
rs6564986	1.00[MEX][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6564988	0.84[YRI][hapmap]
rs7186267	0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187457	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188170	1.00[MEX][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191907	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193358	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195527	0.89[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589621	1.00[EUR][1000 genomes]
rs73589633	1.00[EUR][1000 genomes]
rs73589649	1.00[EUR][1000 genomes]
rs73589675	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73589681	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73589694	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589701	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591403	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591406	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591410	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591415	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591419	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591424	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73604956	1.00[EUR][1000 genomes]
rs8048876	1.00[EUR][1000 genomes]
rs8049032	0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8056380	0.83[YRI][hapmap]
rs8057418	0.84[YRI][hapmap]
rs9929702	0.91[AMR][1000 genomes];1.00[EUR][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	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv457578	chr16:82136566-82197883	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv573366	chr16:82136566-82197883	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv457579	chr16:82150293-82216622	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv573368	chr16:82150293-82216622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv907013	chr16:82154619-82196808	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv525467	chr16:82154619-82223485	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv457580	chr16:82165183-82182104	Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv573369	chr16:82165183-82182104	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv573370	chr16:82165183-82185320	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1061064	chr16:82165314-82213799	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1056381	chr16:82165314-82215388	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1062687	chr16:82165516-82213799	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82157000-82191200	Weak transcription	Fetal Brain Male	brain
2	chr16:82160200-82172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:82160800-82170600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr16:82160800-82171600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr16:82160800-82171600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:82160800-82172200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr16:82160800-82172200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr16:82161000-82172000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:82161000-82172000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr16:82161200-82170200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr16:82164200-82179400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr16:82165800-82179200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:82166000-82172200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:82166600-82172800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:82167200-82170200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:82167200-82179200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:82167400-82179400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:82167600-82170600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:82167600-82172200	Weak transcription	Esophagus	oesophagus
20	chr16:82167600-82180600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:82167800-82171000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:82167800-82172000	Weak transcription	Fetal Thymus	thymus
23	chr16:82167800-82180200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:82168000-82170200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:82168000-82172400	Weak transcription	Thymus	Thymus
26	chr16:82168000-82181000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr16:82168000-82195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr16:82168200-82169800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:82168400-82170200	Weak transcription	Brain Anterior Caudate	brain
30	chr16:82168400-82170600	Enhancers	Dnd41	blood
31	chr16:82168400-82180800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:82168400-82195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr16:82168600-82170400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:82168600-82170400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:82168600-82170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:82168600-82172000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:82168600-82179200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr16:82168600-82180400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr16:82168600-82191000	Weak transcription	HSMMtube	muscle
40	chr16:82168600-82195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr16:82168800-82170400	Weak transcription	NHLF	lung
42	chr16:82168800-82170600	Weak transcription	NHEK	skin
43	chr16:82168800-82170800	Weak transcription	Primary T cells from cord blood	blood
44	chr16:82168800-82171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:82168800-82180600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr16:82168800-82180600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr16:82168800-82180800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr16:82168800-82182000	Weak transcription	NH-A	brain
49	chr16:82169000-82169400	Enhancers	HepG2	liver
50	chr16:82169000-82169800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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