Variant report

Variant	rs114605749
Chromosome Location	chr16:80647594-80647595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80621732..80623861-chr16:80646152..80649105,2	MCF-7	breast:
2	chr16:80646588..80649527-chr16:80660737..80663872,3	MCF-7	breast:
3	chr12:22671878..22674832-chr16:80646701..80648364,2	MCF-7	breast:
4	chr16:80647444..80649245-chr16:80655648..80657363,2	MCF-7	breast:
5	chr16:80646269..80652349-chr16:80833656..80841772,15	MCF-7	breast:
6	chr16:80573284..80576270-chr16:80646874..80649939,5	MCF-7	breast:
7	chr16:80573033..80575436-chr16:80644795..80647684,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260064	Chromatin interaction
ENSG00000166446	Chromatin interaction
ENSG00000259867	Chromatin interaction
ENSG00000168589	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80629200-80647600	Weak transcription	NHEK	skin
2	chr16:80630600-80668000	Weak transcription	Fetal Kidney	kidney
3	chr16:80634000-80647800	Weak transcription	NHLF	lung
4	chr16:80634200-80663600	Weak transcription	Brain Anterior Caudate	brain
5	chr16:80635000-80651200	Weak transcription	Brain Hippocampus Middle	brain
6	chr16:80635400-80655600	Weak transcription	Brain Angular Gyrus	brain
7	chr16:80636000-80648200	Strong transcription	Hela-S3	cervix
8	chr16:80636400-80647800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr16:80636800-80653600	Weak transcription	HSMMtube	muscle
10	chr16:80637000-80653400	Weak transcription	HSMM	muscle
11	chr16:80637200-80648200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:80637400-80648600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr16:80638600-80648000	Weak transcription	Left Ventricle	heart
14	chr16:80639800-80657400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr16:80640400-80647800	Weak transcription	Esophagus	oesophagus
16	chr16:80640600-80652600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr16:80640600-80662200	Weak transcription	Primary T cells from cord blood	blood
18	chr16:80640600-80662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr16:80640800-80663800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr16:80640800-80669200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr16:80641800-80652200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr16:80642000-80648200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:80642200-80652200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr16:80642200-80668200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr16:80642800-80663800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr16:80643000-80649600	Weak transcription	Fetal Stomach	stomach
27	chr16:80643000-80654600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:80643200-80648200	Weak transcription	HUVEC	blood vessel
29	chr16:80644200-80666200	Weak transcription	Brain Substantia Nigra	brain
30	chr16:80645200-80652800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:80645400-80657600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:80645600-80652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:80646000-80653600	Weak transcription	Fetal Intestine Large	intestine
34	chr16:80646000-80656000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:80646200-80648200	Strong transcription	Primary hematopoietic stem cells	blood
36	chr16:80646200-80651000	Enhancers	Placenta	Placenta
37	chr16:80646400-80657800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr16:80646400-80662200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:80646400-80662200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr16:80646600-80647800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:80646600-80648800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr16:80646600-80649000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr16:80646600-80650800	Weak transcription	Liver	Liver
44	chr16:80646600-80651400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr16:80646600-80652000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr16:80646600-80652600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr16:80646600-80653200	Weak transcription	Lung	lung
48	chr16:80646600-80654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:80646600-80657800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr16:80646600-80687800	Weak transcription	Pancreas	Pancrea

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