Variant report

Variant	rs547412162
Chromosome Location	chr4:8507556-8507557
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	SPI1	chr4:8507516-8507640	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8498123..8500167-chr4:8506357..8507950,2	MCF-7	breast:
2	chr4:8506167..8508857-chr4:8582205..8583898,2	MCF-7	breast:
3	chr4:8500499..8503047-chr4:8505239..8508077,2	K562	blood:

Variant related genes	Relation type
ENSG00000205959	TF binding region
ENSG00000155269	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	esv3327752	chr4:8507302-8509800	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8501600-8507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:8501600-8507600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:8501600-8507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:8501600-8507800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:8501600-8507800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:8501600-8507800	Weak transcription	Brain Angular Gyrus	brain
7	chr4:8501800-8510600	Enhancers	Ovary	ovary
8	chr4:8502800-8512800	Enhancers	Placenta	Placenta
9	chr4:8503600-8509400	Enhancers	Right Ventricle	heart
10	chr4:8503600-8509800	Enhancers	Adipose Nuclei	Adipose
11	chr4:8504200-8509000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr4:8504200-8509400	Enhancers	Right Atrium	heart
13	chr4:8504200-8510600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:8504600-8507600	Weak transcription	Fetal Kidney	kidney
15	chr4:8504600-8510800	Enhancers	Fetal Muscle Leg	muscle
16	chr4:8504800-8507800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:8505000-8508000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:8505200-8507800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:8505200-8507800	Weak transcription	Brain Anterior Caudate	brain
20	chr4:8505200-8508000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:8505400-8507800	Weak transcription	HSMM	muscle
22	chr4:8505400-8509000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:8505600-8507800	Weak transcription	NHDF-Ad	bronchial
24	chr4:8505800-8507800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:8505800-8509600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:8505800-8509800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:8506000-8507600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:8506000-8509000	Enhancers	Spleen	Spleen
29	chr4:8506200-8507600	Weak transcription	Fetal Brain Male	brain
30	chr4:8506200-8507800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:8506200-8507800	Weak transcription	Colonic Mucosa	Colon
32	chr4:8506200-8508200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:8506200-8509600	Enhancers	HSMMtube	muscle
34	chr4:8506400-8507600	Weak transcription	Fetal Lung	lung
35	chr4:8506400-8507800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:8506400-8507800	Weak transcription	Brain Substantia Nigra	brain
37	chr4:8506400-8507800	Weak transcription	Left Ventricle	heart
38	chr4:8506400-8508200	Weak transcription	Lung	lung
39	chr4:8506400-8509200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:8506600-8507600	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:8506600-8508200	Weak transcription	Pancreas	Pancrea
42	chr4:8506600-8508600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:8506800-8507800	Weak transcription	Brain Hippocampus Middle	brain
44	chr4:8506800-8508200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:8507000-8509200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:8507000-8509800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr4:8507200-8509400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:8507200-8509400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr4:8507200-8512000	Weak transcription	Gastric	stomach
50	chr4:8507400-8507600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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