Variant report

Variant	rs28694776
Chromosome Location	chr4:16233685-16233686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:16228635-16234024	K562	blood:	n/a	n/a
2	JUND	chr4:16233080-16233921	K562	blood:	n/a	chr4:16233388-16233396 chr4:16233387-16233397 chr4:16233388-16233395 chr4:16233386-16233398 chr4:16233388-16233396
3	EP300	chr4:16233204-16233882	K562	blood:	n/a	chr4:16233388-16233397 chr4:16233688-16233702 chr4:16233692-16233706 chr4:16233694-16233708
4	ZNF384	chr4:16233612-16233914	K562	blood:	n/a	n/a
5	ARID3A	chr4:16233262-16233723	K562	blood:	n/a	n/a
6	POLR2A	chr4:16232660-16233905	MCF10A-Er-Src	breast:	n/a	n/a
7	EBF1	chr4:16233648-16233746	GM12878	blood:	n/a	n/a
8	IRF1	chr4:16233234-16234275	K562	blood:	n/a	chr4:16234236-16234250 chr4:16234002-16234019 chr4:16234232-16234252 chr4:16233600-16233613 chr4:16234002-16234014 chr4:16233947-16233960 chr4:16234003-16234014 chr4:16234004-16234015 chr4:16233600-16233611 chr4:16234002-16234014 chr4:16233999-16234013 chr4:16234114-16234131

No.	Distal block	Cell Line	Cell type
1	chr4:16215439..16216101-chr4:16232860..16233690,2	K562	blood:
2	chr4:16233218..16235689-chr4:16242386..16245204,2	MCF-7	breast:
3	chr4:16230982..16233844-chr4:16235259..16238422,3	MCF-7	breast:
4	chr4:16227416..16229454-chr4:16230827..16235422,5	MCF-7	breast:

Variant related genes	Relation type
TAPT1	TF binding region
ENSG00000263327	Chromatin interaction
ENSG00000169762	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	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv878720	chr4:16222046-16242215	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv593778	chr4:16227851-16233787	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16229400-16241000	Weak transcription	Aorta	Aorta
2	chr4:16229600-16234200	Weak transcription	Brain Germinal Matrix	brain
3	chr4:16229600-16235400	Weak transcription	Left Ventricle	heart
4	chr4:16229600-16237600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:16229600-16254000	Weak transcription	Ovary	ovary
6	chr4:16229600-16254800	Weak transcription	Psoas Muscle	Psoas
7	chr4:16229800-16233800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:16229800-16233800	Weak transcription	Fetal Kidney	kidney
9	chr4:16229800-16241400	Weak transcription	Primary T cells from cord blood	blood
10	chr4:16229800-16259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:16230000-16233800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:16230000-16237000	Weak transcription	Fetal Brain Female	brain
13	chr4:16230000-16238000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:16230000-16244200	Weak transcription	Pancreas	Pancrea
15	chr4:16230000-16244800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:16230000-16244800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:16230200-16233800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:16230600-16233800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:16230600-16244200	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:16231600-16235000	Enhancers	Primary B cells from peripheral blood	blood
21	chr4:16232000-16234000	Enhancers	K562	blood
22	chr4:16232200-16244000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:16232600-16238200	Enhancers	Fetal Brain Male	brain
24	chr4:16232800-16233800	Enhancers	Primary B cells from cord blood	blood
25	chr4:16232800-16234000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:16232800-16235400	Weak transcription	Right Ventricle	heart
27	chr4:16233000-16233800	Enhancers	A549	lung
28	chr4:16233000-16234000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:16233000-16234000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:16233000-16234200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:16233000-16234200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:16233000-16234200	Enhancers	Colon Smooth Muscle	Colon
33	chr4:16233000-16234400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:16233000-16234400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:16233000-16234400	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr4:16233000-16234600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:16233000-16234600	Enhancers	Adipose Nuclei	Adipose
38	chr4:16233200-16234000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:16233200-16234000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:16233200-16234000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr4:16233200-16234000	Enhancers	Stomach Mucosa	stomach
42	chr4:16233200-16234000	Enhancers	Osteobl	bone
43	chr4:16233200-16234200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:16233400-16233800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:16233400-16233800	Active TSS	Brain Anterior Caudate	brain
46	chr4:16233400-16233800	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr4:16233400-16234000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:16233400-16234000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:16233400-16234000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr4:16233400-16234000	Flanking Active TSS	NHDF-Ad	bronchial

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