Variant report

Variant	rs72487971
Chromosome Location	chr16:80644651-80644652
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80644284..80647227-chr16:80651769..80654073,2	K562	blood:
2	chr16:80643464..80646861-chr16:80834784..80838958,5	MCF-7	breast:
3	chr16:80616339..80621061-chr16:80643147..80647399,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166446	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16953639	1.00[EUR][1000 genomes]
rs16953641	1.00[EUR][1000 genomes]
rs16953658	1.00[ASN][1000 genomes]
rs2123282	1.00[ASN][1000 genomes]
rs2167672	1.00[ASN][1000 genomes]
rs58145741	1.00[ASN][1000 genomes]
rs58949721	1.00[ASN][1000 genomes]
rs6564766	1.00[EUR][1000 genomes]
rs6564767	1.00[EUR][1000 genomes]
rs7186246	1.00[EUR][1000 genomes]
rs7201422	1.00[ASN][1000 genomes]
rs74028333	1.00[ASN][1000 genomes]

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	chr16:80633800-80645200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:80634000-80647800	Weak transcription	NHLF	lung
7	chr16:80634200-80663600	Weak transcription	Brain Anterior Caudate	brain
8	chr16:80634800-80645600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:80635000-80651200	Weak transcription	Brain Hippocampus Middle	brain
10	chr16:80635400-80655600	Weak transcription	Brain Angular Gyrus	brain
11	chr16:80636000-80648200	Strong transcription	Hela-S3	cervix
12	chr16:80636400-80645000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:80636400-80647800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr16:80636800-80653600	Weak transcription	HSMMtube	muscle
15	chr16:80637000-80653400	Weak transcription	HSMM	muscle
16	chr16:80637200-80648200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:80637400-80644800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:80637400-80648600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:80637800-80647200	Strong transcription	Fetal Intestine Small	intestine
20	chr16:80638200-80645200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:80638600-80645400	Weak transcription	Pancreas	Pancrea
22	chr16:80638600-80645800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:80638600-80648000	Weak transcription	Left Ventricle	heart
24	chr16:80639800-80657400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr16:80640400-80647800	Weak transcription	Esophagus	oesophagus
26	chr16:80640600-80646200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr16:80640600-80652600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:80640600-80662200	Weak transcription	Primary T cells from cord blood	blood
29	chr16:80640600-80662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr16:80640800-80663800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr16:80640800-80669200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr16:80641400-80645200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr16:80641400-80646800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:80641400-80647000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:80641800-80652200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr16:80642000-80644800	Weak transcription	Adipose Nuclei	Adipose
37	chr16:80642000-80648200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr16:80642200-80645600	Weak transcription	Aorta	Aorta
39	chr16:80642200-80645600	Weak transcription	Fetal Intestine Large	intestine
40	chr16:80642200-80652200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr16:80642200-80668200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr16:80642400-80645400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:80642600-80645000	Weak transcription	Spleen	Spleen
44	chr16:80642600-80645400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr16:80642600-80645600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr16:80642800-80663800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr16:80643000-80645400	Weak transcription	Lung	lung
48	chr16:80643000-80649600	Weak transcription	Fetal Stomach	stomach
49	chr16:80643000-80654600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:80643200-80644800	Enhancers	Placenta	Placenta

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