Variant report

Variant	rs563226484
Chromosome Location	chr16:80657747-80657748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80653589..80657400-chr16:80657593..80661612,3	K562	blood:
2	chr16:80657007..80659717-chr16:80664386..80666332,2	K562	blood:
3	chr16:80654014..80661253-chr16:80836600..80840694,9	MCF-7	breast:
4	chr16:80653485..80655242-chr16:80656903..80659850,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166446	Chromatin interaction

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	nsv1063971	chr16:80640278-80663092	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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

No data

Chromatin state (count:49 , 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	chr16:80640600-80662200	Weak transcription	Primary T cells from cord blood	blood
4	chr16:80640600-80662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr16:80640800-80663800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr16:80640800-80669200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr16:80642200-80668200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:80642800-80663800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr16:80644200-80666200	Weak transcription	Brain Substantia Nigra	brain
10	chr16:80646400-80657800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr16:80646400-80662200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:80646400-80662200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:80646600-80657800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:80646600-80687800	Weak transcription	Pancreas	Pancrea
15	chr16:80647000-80665000	Weak transcription	Gastric	stomach
16	chr16:80649600-80657800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr16:80649600-80658000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr16:80650000-80661800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:80650400-80659800	Strong transcription	Hela-S3	cervix
20	chr16:80653200-80668200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr16:80653600-80658400	Enhancers	Placenta	Placenta
22	chr16:80653600-80662200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr16:80653600-80666800	Weak transcription	Esophagus	oesophagus
24	chr16:80653600-80667400	Weak transcription	Fetal Stomach	stomach
25	chr16:80653800-80657800	Weak transcription	Adipose Nuclei	Adipose
26	chr16:80653800-80662000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr16:80654000-80657800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr16:80654200-80658400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:80654400-80662000	Weak transcription	Liver	Liver
30	chr16:80654400-80667800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:80654400-80668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:80654600-80657800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:80654800-80662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:80655000-80661800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:80655000-80662400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:80655200-80657800	Weak transcription	Fetal Intestine Small	intestine
37	chr16:80655800-80657800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:80657000-80657800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:80657000-80658000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:80657000-80658400	Enhancers	HUVEC	blood vessel
41	chr16:80657200-80658000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:80657200-80658000	Enhancers	NHEK	skin
43	chr16:80657200-80668000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:80657400-80657800	Weak transcription	Spleen	Spleen
45	chr16:80657400-80658000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr16:80657600-80657800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:80657600-80657800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr16:80657600-80657800	Enhancers	Fetal Muscle Leg	muscle
49	chr16:80657600-80658200	ZNF genes & repeats	Aorta	Aorta

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