Variant report

Variant	rs9926999
Chromosome Location	chr16:81564937-81564938
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81556103..81559286-chr16:81561998..81564976,3	K562	blood:
2	chr16:81560059..81563945-chr16:81564065..81567469,4	MCF-7	breast:
3	chr16:81560475..81564171-chr16:81564775..81571060,7	K562	blood:
4	chr16:81563450..81565897-chr16:81690369..81692226,2	K562	blood:
5	chr16:81512177..81513721-chr16:81563313..81565727,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13331687	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13333262	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13333615	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13338891	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17777603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061679	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2287112	1.00[CEU][hapmap]
rs28404001	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28410432	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28651456	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58072681	0.81[EUR][1000 genomes]
rs58915321	1.00[ASN][1000 genomes]
rs7196069	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7196272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7198024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7200347	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7201098	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7201103	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7201762	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7203208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9319570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9922045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9928591	1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9931108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81547400-81571600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr16:81547800-81571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr16:81548800-81567400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:81553600-81565400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr16:81553800-81566200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:81555400-81576800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr16:81555800-81572200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:81556000-81590000	Weak transcription	Dnd41	blood
9	chr16:81556200-81568000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:81556200-81577600	Weak transcription	GM12878-XiMat	blood
11	chr16:81556800-81571400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr16:81557400-81565200	Weak transcription	Primary T cells from cord blood	blood
13	chr16:81558000-81565600	Weak transcription	Thymus	Thymus
14	chr16:81560200-81567800	Enhancers	Placenta	Placenta
15	chr16:81560400-81566800	Weak transcription	NHLF	lung
16	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:81560800-81566200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:81560800-81566400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:81560800-81571600	Weak transcription	Fetal Brain Male	brain
20	chr16:81560800-81571600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr16:81560800-81572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:81561000-81565000	Weak transcription	Pancreas	Pancrea
23	chr16:81561000-81565600	Weak transcription	Colonic Mucosa	Colon
24	chr16:81561000-81566400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:81561000-81567400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr16:81561000-81567400	Weak transcription	Gastric	stomach
27	chr16:81561000-81576400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr16:81561000-81576800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:81561400-81565000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:81561400-81566400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr16:81561400-81571600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr16:81561400-81571600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr16:81561400-81572600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:81561400-81575000	Weak transcription	HUVEC	blood vessel
35	chr16:81561400-81576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:81561400-81576600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr16:81561600-81565200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:81561600-81565600	Weak transcription	Primary B cells from cord blood	blood
39	chr16:81561600-81565600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr16:81561600-81566000	Genic enhancers	A549	lung
41	chr16:81561600-81571400	Weak transcription	Right Atrium	heart
42	chr16:81561600-81571600	Weak transcription	Fetal Lung	lung
43	chr16:81561600-81573000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:81561600-81576600	Weak transcription	Right Ventricle	heart
45	chr16:81561600-81577600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr16:81562000-81578000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:81562200-81569400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr16:81562400-81572800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr16:81562600-81571800	Weak transcription	Stomach Mucosa	stomach
50	chr16:81563200-81569400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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