Variant report

Variant	rs567230291
Chromosome Location	chr16:80837426-80837427
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80836267..80838116-chr16:81067816..81069508,2	MCF-7	breast:
2	chr16:80744840..80746889-chr16:80835828..80837978,2	MCF-7	breast:
3	chr16:80573487..80575142-chr16:80836688..80838672,2	MCF-7	breast:
4	chr16:80653224..80655610-chr16:80835327..80837663,2	MCF-7	breast:
5	chr16:80745711..80747675-chr16:80834808..80837555,2	MCF-7	breast:
6	chr16:80836730..80839628-chr16:80867393..80871297,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168589	Chromatin interaction
ENSG00000260896	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000259867	Chromatin interaction
ENSG00000166454	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv542990	chr16:80729797-80918198	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv833301	chr16:80732170-80928751	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv457560	chr16:80825206-80858143	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv573302	chr16:80825206-80858143	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv3376994	chr16:80836476-80839824	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv3439821	chr16:80836901-80839624	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	esv3420456	chr16:80837001-80839399	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80832400-80838800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:80836400-80837600	Enhancers	Esophagus	oesophagus
3	chr16:80836400-80838200	Active TSS	Brain Angular Gyrus	brain
4	chr16:80836600-80839000	Active TSS	HSMM	muscle
5	chr16:80836800-80838600	Active TSS	Primary hematopoietic stem cells	blood
6	chr16:80836800-80838600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr16:80836800-80838800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:80836800-80838800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:80836800-80838800	Active TSS	NH-A	brain
10	chr16:80836800-80838800	Active TSS	NHEK	skin
11	chr16:80836800-80839000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:80836800-80839000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
13	chr16:80837000-80837600	Enhancers	Adipose Nuclei	Adipose
14	chr16:80837000-80838200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:80837000-80838200	Active TSS	Brain Substantia Nigra	brain
16	chr16:80837000-80838200	Active TSS	NHDF-Ad	bronchial
17	chr16:80837000-80838400	Active TSS	Fetal Kidney	kidney
18	chr16:80837000-80838600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr16:80837000-80838600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:80837000-80838600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:80837000-80838600	Active TSS	Right Ventricle	heart
22	chr16:80837000-80838800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:80837000-80838800	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr16:80837000-80838800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr16:80837000-80838800	Active TSS	Duodenum Mucosa	Duodenum
26	chr16:80837000-80839000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr16:80837000-80839000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:80837000-80839000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr16:80837000-80839000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:80837000-80839000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:80837000-80839000	Active TSS	Brain Anterior Caudate	brain
32	chr16:80837000-80839200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:80837000-80839200	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr16:80837000-80839200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr16:80837000-80839200	Active TSS	Rectal Smooth Muscle	rectum
36	chr16:80837000-80839200	Active TSS	Osteobl	bone
37	chr16:80837200-80837600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:80837200-80837600	Enhancers	Primary B cells from peripheral blood	blood
39	chr16:80837200-80837600	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr16:80837200-80838000	Active TSS	Brain Cingulate Gyrus	brain
41	chr16:80837200-80838200	Active TSS	Primary T cells from cord blood	blood
42	chr16:80837200-80838200	Active TSS	Liver	Liver
43	chr16:80837200-80838400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:80837200-80838400	Active TSS	Brain Hippocampus Middle	brain
45	chr16:80837200-80838600	Active TSS	Lung	lung
46	chr16:80837200-80838800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr16:80837200-80838800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr16:80837200-80838800	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr16:80837200-80838800	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr16:80837200-80838800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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