Variant report

Variant	rs166012
Chromosome Location	chr16:75431784-75431785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11149819	0.93[EUR][1000 genomes]
rs173526	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs247440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs247446	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs37603	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs42471	1.00[CEU][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7192981	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	esv2422358	chr16:75381762-75456763	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
6	nsv525232	chr16:75402361-75439132	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv525466	chr16:75402361-75439132	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
9	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
10	nsv1062023	chr16:75427013-75461626	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	esv3313002	chr16:75427951-75432649	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3330870	chr16:75428551-75432449	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3362533	chr16:75428901-75432149	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
14	esv3373135	chr16:75428976-75431824	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75406000-75453400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:75407200-75454200	Weak transcription	Stomach Mucosa	stomach
3	chr16:75409200-75445400	Weak transcription	Colonic Mucosa	Colon
4	chr16:75412600-75446000	Weak transcription	Brain Substantia Nigra	brain
5	chr16:75415400-75443200	Weak transcription	Small Intestine	intestine
6	chr16:75415600-75453400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:75424600-75435600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:75425400-75454200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:75425400-75457200	Weak transcription	Fetal Brain Male	brain
10	chr16:75427000-75443400	Weak transcription	Hela-S3	cervix
11	chr16:75427200-75431800	Weak transcription	Pancreas	Pancrea
12	chr16:75427200-75431800	Weak transcription	Right Atrium	heart
13	chr16:75427200-75435600	Weak transcription	NHDF-Ad	bronchial
14	chr16:75427200-75435600	Weak transcription	NHEK	skin
15	chr16:75427200-75435800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:75427200-75438400	Weak transcription	GM12878-XiMat	blood
17	chr16:75427200-75438600	Weak transcription	Ovary	ovary
18	chr16:75427200-75439200	Weak transcription	Fetal Brain Female	brain
19	chr16:75427200-75440000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:75427200-75441600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr16:75427200-75443400	Weak transcription	Fetal Kidney	kidney
22	chr16:75427200-75445000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:75427200-75445400	Weak transcription	Brain Angular Gyrus	brain
24	chr16:75427200-75445400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr16:75427200-75445400	Weak transcription	A549	lung
26	chr16:75427200-75445400	Weak transcription	K562	blood
27	chr16:75427200-75446200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr16:75427200-75449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:75427200-75464400	Weak transcription	Esophagus	oesophagus
30	chr16:75427200-75465400	Weak transcription	Spleen	Spleen
31	chr16:75427400-75431800	Weak transcription	NHLF	lung
32	chr16:75427400-75438400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr16:75427600-75441000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr16:75428200-75431800	Weak transcription	Fetal Heart	heart
35	chr16:75428200-75435600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:75428200-75435800	Weak transcription	HSMMtube	muscle
37	chr16:75428200-75453400	Weak transcription	Psoas Muscle	Psoas
38	chr16:75428400-75441600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:75428600-75435400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr16:75429000-75431800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:75429000-75431800	Weak transcription	Aorta	Aorta
42	chr16:75429000-75431800	Weak transcription	Left Ventricle	heart
43	chr16:75429000-75432000	Weak transcription	Right Ventricle	heart
44	chr16:75429000-75434400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr16:75429000-75435200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:75429000-75435200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr16:75429000-75440000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr16:75429000-75443200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr16:75429000-75445000	Weak transcription	Lung	lung
50	chr16:75429000-75454400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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