Variant report

Variant	rs572598512
Chromosome Location	chr16:80640870-80640871
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80636259..80637791-chr16:80640662..80642901,2	K562	blood:
2	chr16:80611783..80614483-chr16:80638883..80641243,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80625400-80645600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:80626800-80645800	Weak transcription	Right Ventricle	heart
3	chr16:80629200-80647600	Weak transcription	NHEK	skin
4	chr16:80630600-80668000	Weak transcription	Fetal Kidney	kidney
5	chr16:80631000-80641400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:80633800-80645200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:80634000-80647800	Weak transcription	NHLF	lung
8	chr16:80634200-80663600	Weak transcription	Brain Anterior Caudate	brain
9	chr16:80634400-80641000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:80634600-80641000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr16:80634800-80645600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr16:80635000-80651200	Weak transcription	Brain Hippocampus Middle	brain
13	chr16:80635400-80655600	Weak transcription	Brain Angular Gyrus	brain
14	chr16:80636000-80648200	Strong transcription	Hela-S3	cervix
15	chr16:80636400-80641800	Weak transcription	Fetal Stomach	stomach
16	chr16:80636400-80645000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr16:80636400-80647800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr16:80636600-80641800	Weak transcription	Fetal Intestine Large	intestine
19	chr16:80636800-80653600	Weak transcription	HSMMtube	muscle
20	chr16:80637000-80653400	Weak transcription	HSMM	muscle
21	chr16:80637200-80644400	Weak transcription	NHDF-Ad	bronchial
22	chr16:80637200-80648200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:80637400-80644800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:80637400-80648600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:80637800-80642600	Strong transcription	Spleen	Spleen
26	chr16:80637800-80643200	Strong transcription	HUVEC	blood vessel
27	chr16:80637800-80647200	Strong transcription	Fetal Intestine Small	intestine
28	chr16:80638200-80645200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:80638400-80641000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr16:80638400-80641000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:80638600-80641000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr16:80638600-80641400	Weak transcription	Liver	Liver
33	chr16:80638600-80645400	Weak transcription	Pancreas	Pancrea
34	chr16:80638600-80645800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:80638600-80648000	Weak transcription	Left Ventricle	heart
36	chr16:80638800-80641000	Weak transcription	Aorta	Aorta
37	chr16:80638800-80642000	Weak transcription	Gastric	stomach
38	chr16:80639600-80642600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:80639800-80642200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr16:80639800-80642600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:80639800-80643000	Strong transcription	Lung	lung
42	chr16:80639800-80657400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr16:80640000-80641200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr16:80640000-80641400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:80640000-80642600	Genic enhancers	Placenta	Placenta
46	chr16:80640000-80644000	Weak transcription	Brain Substantia Nigra	brain
47	chr16:80640200-80641800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr16:80640200-80642600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:80640200-80642600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr16:80640200-80644200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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