Variant report

Variant	rs543916994
Chromosome Location	chr16:80663109-80663110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:80663063-80663155	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000260064	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1056083	chr16:80636184-80666779	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1063761	chr16:80640278-80663665	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1055196	chr16:80647550-80672417	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1057562	chr16:80650768-80675842	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1058764	chr16:80656966-80707848	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80630600-80668000	Weak transcription	Fetal Kidney	kidney
2	chr16:80634200-80663600	Weak transcription	Brain Anterior Caudate	brain
3	chr16:80640800-80663800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr16:80640800-80669200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:80642200-80668200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:80642800-80663800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr16:80644200-80666200	Weak transcription	Brain Substantia Nigra	brain
8	chr16:80646600-80687800	Weak transcription	Pancreas	Pancrea
9	chr16:80647000-80665000	Weak transcription	Gastric	stomach
10	chr16:80653200-80668200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr16:80653600-80666800	Weak transcription	Esophagus	oesophagus
12	chr16:80653600-80667400	Weak transcription	Fetal Stomach	stomach
13	chr16:80654400-80667800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:80654400-80668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr16:80657200-80668000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:80658000-80667200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:80658000-80668200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:80658400-80666600	Weak transcription	HUVEC	blood vessel
19	chr16:80658800-80668200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:80660000-80668800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr16:80660200-80666800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr16:80661400-80667600	Strong transcription	Hela-S3	cervix
23	chr16:80661600-80663600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr16:80661600-80666800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:80661800-80663200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr16:80661800-80663200	ZNF genes & repeats	Aorta	Aorta
27	chr16:80662200-80663200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:80662200-80669000	Weak transcription	Brain Hippocampus Middle	brain
29	chr16:80662400-80663400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:80662400-80663400	Strong transcription	Spleen	Spleen
31	chr16:80662400-80665600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr16:80662400-80668600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr16:80662600-80663200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr16:80662600-80665000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:80662600-80665000	Strong transcription	Fetal Intestine Small	intestine
36	chr16:80662600-80666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:80662800-80663200	Genic enhancers	Placenta	Placenta
38	chr16:80662800-80663400	ZNF genes & repeats	Lung	lung
39	chr16:80662800-80665800	Weak transcription	Adipose Nuclei	Adipose
40	chr16:80663000-80668400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr16:80663000-80669200	Weak transcription	Liver	Liver

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