Variant report

Variant	rs563048208
Chromosome Location	chr4:16230726-16230727
allele	G/T
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	RFX5	chr4:16230717-16230777	K562	blood:	n/a	n/a
2	POLR2A	chr4:16228635-16234024	K562	blood:	n/a	n/a
3	ZNF384	chr4:16229881-16230885	K562	blood:	n/a	n/a
4	POLR2A	chr4:16230349-16232360	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr4:16230612-16230949	MCF10A-Er-Src	breast:	n/a	n/a
6	TBL1XR1	chr4:16230613-16230809	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16230488..16232179-chr4:16234227..16236390,2	MCF-7	breast:

Variant related genes	Relation type
TAPT1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv967728	chr4:16229943-16232845	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16225600-16230800	Active TSS	A549	lung
2	chr4:16226600-16230800	Active TSS	K562	blood
3	chr4:16227000-16230800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr4:16228800-16230800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr4:16229200-16231000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:16229400-16231600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:16229400-16241000	Weak transcription	Aorta	Aorta
8	chr4:16229600-16233000	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:16229600-16233200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:16229600-16233400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:16229600-16233400	Weak transcription	Right Atrium	heart
12	chr4:16229600-16234200	Weak transcription	Brain Germinal Matrix	brain
13	chr4:16229600-16235400	Weak transcription	Left Ventricle	heart
14	chr4:16229600-16237600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:16229600-16254000	Weak transcription	Ovary	ovary
16	chr4:16229600-16254800	Weak transcription	Psoas Muscle	Psoas
17	chr4:16229800-16230800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:16229800-16230800	Weak transcription	Right Ventricle	heart
19	chr4:16229800-16230800	Enhancers	HepG2	liver
20	chr4:16229800-16233000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:16229800-16233000	Weak transcription	HUVEC	blood vessel
22	chr4:16229800-16233000	Weak transcription	NHDF-Ad	bronchial
23	chr4:16229800-16233200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:16229800-16233200	Weak transcription	Osteobl	bone
25	chr4:16229800-16233400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:16229800-16233800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:16229800-16233800	Weak transcription	Fetal Kidney	kidney
28	chr4:16229800-16241400	Weak transcription	Primary T cells from cord blood	blood
29	chr4:16229800-16259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:16230000-16231000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:16230000-16231200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:16230000-16231200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:16230000-16232000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:16230000-16232000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:16230000-16232800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:16230000-16233000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:16230000-16233200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:16230000-16233200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:16230000-16233200	Weak transcription	Stomach Mucosa	stomach
40	chr4:16230000-16233400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:16230000-16233800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:16230000-16237000	Weak transcription	Fetal Brain Female	brain
43	chr4:16230000-16238000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:16230000-16244200	Weak transcription	Pancreas	Pancrea
45	chr4:16230000-16244800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:16230000-16244800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:16230200-16230800	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr4:16230200-16232600	Weak transcription	Fetal Brain Male	brain
49	chr4:16230200-16233000	Weak transcription	Adipose Nuclei	Adipose
50	chr4:16230200-16233200	Enhancers	Brain Hippocampus Middle	brain

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