Variant report

Variant	rs9933205
Chromosome Location	chr16:12864025-12864026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13332101	1.00[AMR][1000 genomes]
rs13333158	1.00[AMR][1000 genomes]
rs13334654	1.00[AMR][1000 genomes]
rs60209758	1.00[AMR][1000 genomes]
rs62029680	1.00[AMR][1000 genomes]
rs9922426	1.00[AMR][1000 genomes]
rs9926045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9927063	1.00[AMR][1000 genomes]
rs9934013	1.00[AMR][1000 genomes]
rs9939974	1.00[AMR][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	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1053617	chr16:12730958-12871639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv869284	chr16:12735729-13533462	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1052802	chr16:12766360-12964248	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1036493	chr16:12817416-12881078	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
9	esv2751547	chr16:12817920-12882336	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	esv2751548	chr16:12817920-12892036	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	nsv1052892	chr16:12824219-12881078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	nsv525286	chr16:12826785-12878592	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	nsv571480	chr16:12826785-12878592	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv571481	chr16:12826785-12880446	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	esv2751549	chr16:12829006-12880446	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12834800-12873600	Weak transcription	Aorta	Aorta
2	chr16:12835600-12865200	Weak transcription	Ovary	ovary
3	chr16:12835600-12869800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr16:12839200-12869000	Weak transcription	Primary B cells from cord blood	blood
5	chr16:12839600-12865000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:12839600-12873600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:12847600-12865000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr16:12849200-12865000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:12849600-12865000	Weak transcription	Osteobl	bone
10	chr16:12850200-12876400	Weak transcription	Primary T cells from cord blood	blood
11	chr16:12852200-12868400	Weak transcription	Adipose Nuclei	Adipose
12	chr16:12852200-12896600	Weak transcription	Right Ventricle	heart
13	chr16:12852400-12867800	Weak transcription	Lung	lung
14	chr16:12852400-12873600	Weak transcription	Spleen	Spleen
15	chr16:12852400-12896600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr16:12852600-12868400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr16:12852600-12870600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:12852600-12877600	Weak transcription	HSMMtube	muscle
19	chr16:12853000-12870000	Weak transcription	GM12878-XiMat	blood
20	chr16:12853400-12868400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr16:12855000-12864400	Weak transcription	Fetal Intestine Small	intestine
22	chr16:12855000-12868600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr16:12855000-12881800	Weak transcription	Pancreas	Pancrea
24	chr16:12857200-12881800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr16:12857800-12869200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:12859000-12869600	Weak transcription	Left Ventricle	heart
27	chr16:12859000-12873600	Weak transcription	Gastric	stomach
28	chr16:12859000-12873600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:12859200-12865000	Weak transcription	Liver	Liver
30	chr16:12859400-12869200	Weak transcription	Thymus	Thymus
31	chr16:12860000-12865000	Weak transcription	HUVEC	blood vessel
32	chr16:12860000-12879400	Weak transcription	Fetal Heart	heart
33	chr16:12860400-12877400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr16:12860600-12877000	Weak transcription	Psoas Muscle	Psoas
35	chr16:12860800-12868600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:12861000-12870000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:12861400-12865200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:12861600-12868800	Weak transcription	Small Intestine	intestine
39	chr16:12861800-12883400	Weak transcription	Colonic Mucosa	Colon
40	chr16:12862200-12869600	Weak transcription	A549	lung
41	chr16:12862200-12878000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr16:12862200-12878800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr16:12862400-12865000	Weak transcription	K562	blood
44	chr16:12862600-12864400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:12862600-12873400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr16:12862800-12869400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:12862800-12876600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr16:12862800-12876600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr16:12863200-12865000	Strong transcription	HepG2	liver
50	chr16:12863200-12866000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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