Variant report

Variant	rs554940105
Chromosome Location	chr4:8504700-8504701
allele	C/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	MAZ	chr4:8504600-8504847	K562	blood:	n/a	n/a
2	RCOR1	chr4:8504575-8504906	K562	blood:	n/a	n/a
3	JUND	chr4:8504637-8504875	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr4:8504512-8505052	ECC-1	luminal epithelium:	n/a	n/a
5	NFIC	chr4:8504167-8505078	ECC-1	luminal epithelium:	n/a	n/a
6	EGR1	chr4:8504584-8504854	K562	blood:	n/a	chr4:8504737-8504750 chr4:8504737-8504750 chr4:8504736-8504751
7	TEAD4	chr4:8504555-8504906	K562	blood:	n/a	n/a
8	EGR1	chr4:8504565-8504922	ECC-1	luminal epithelium:	n/a	chr4:8504737-8504750 chr4:8504737-8504750 chr4:8504736-8504751
9	TEAD4	chr4:8504486-8505007	ECC-1	luminal epithelium:	n/a	n/a
10	JUND	chr4:8504513-8504933	K562	blood:	n/a	n/a
11	JUN	chr4:8504666-8504813	HepG2	liver:	n/a	chr4:8504716-8504729
12	JUN	chr4:8504502-8505173	K562	blood:	n/a	chr4:8504716-8504729
13	EGR1	chr4:8504608-8504843	K562	blood:	n/a	chr4:8504737-8504750 chr4:8504737-8504750 chr4:8504736-8504751
14	ESR1	chr4:8504575-8504960	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8500815..8505571-chr4:8524859..8530536,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205959	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3377450	chr4:8502852-8506150	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv4224	chr4:8503727-8546462	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8491000-8505200	Weak transcription	Fetal Brain Female	brain
2	chr4:8501600-8505200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:8501600-8505600	Weak transcription	Gastric	stomach
4	chr4:8501600-8505800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:8501600-8505800	Weak transcription	Colonic Mucosa	Colon
6	chr4:8501600-8505800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:8501600-8506000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:8501600-8507000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:8501600-8507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:8501600-8507400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:8501600-8507400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:8501600-8507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:8501600-8507600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:8501600-8507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:8501600-8507800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:8501600-8507800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:8501600-8507800	Weak transcription	Brain Angular Gyrus	brain
18	chr4:8501800-8510600	Enhancers	Ovary	ovary
19	chr4:8502800-8504800	Enhancers	HSMMtube	muscle
20	chr4:8502800-8505800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:8502800-8512800	Enhancers	Placenta	Placenta
22	chr4:8503000-8505400	Enhancers	HSMM	muscle
23	chr4:8503000-8506800	Enhancers	Brain Hippocampus Middle	brain
24	chr4:8503600-8509400	Enhancers	Right Ventricle	heart
25	chr4:8503600-8509800	Enhancers	Adipose Nuclei	Adipose
26	chr4:8503800-8505800	Enhancers	Fetal Lung	lung
27	chr4:8504000-8506200	Enhancers	Fetal Heart	heart
28	chr4:8504200-8504800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:8504200-8504800	Enhancers	Esophagus	oesophagus
30	chr4:8504200-8505200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:8504200-8506200	Enhancers	Fetal Brain Male	brain
32	chr4:8504200-8506400	Enhancers	Left Ventricle	heart
33	chr4:8504200-8506400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr4:8504200-8506600	Enhancers	Pancreas	Pancrea
35	chr4:8504200-8509000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr4:8504200-8509400	Enhancers	Right Atrium	heart
37	chr4:8504200-8510600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:8504400-8504800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:8504400-8504800	Bivalent Enhancer	Fetal Stomach	stomach
40	chr4:8504400-8505000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr4:8504400-8505200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:8504400-8505400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:8504400-8505400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
44	chr4:8504400-8506200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:8504400-8506400	Enhancers	Lung	lung
46	chr4:8504400-8506600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr4:8504400-8507400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
48	chr4:8504600-8504800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:8504600-8504800	Enhancers	NHDF-Ad	bronchial
50	chr4:8504600-8504800	Bivalent Enhancer	Osteobl	bone

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