Variant report

Variant	rs386399196
Chromosome Location	chr4:8504407-8504408
allele	-/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	NFIC	chr4:8504167-8505078	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr4:8504219-8504452	K562	blood:	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:56 , 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	chr4:8501600-8504600	Weak transcription	Brain Anterior Caudate	brain
3	chr4:8501600-8504600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:8501600-8505200	Weak transcription	Brain Substantia Nigra	brain
5	chr4:8501600-8505600	Weak transcription	Gastric	stomach
6	chr4:8501600-8505800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:8501600-8505800	Weak transcription	Colonic Mucosa	Colon
8	chr4:8501600-8505800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:8501600-8506000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:8501600-8507000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:8501600-8507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:8501600-8507400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:8501600-8507400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:8501600-8507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:8501600-8507600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:8501600-8507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:8501600-8507800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:8501600-8507800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:8501600-8507800	Weak transcription	Brain Angular Gyrus	brain
20	chr4:8501800-8510600	Enhancers	Ovary	ovary
21	chr4:8502800-8504800	Enhancers	HSMMtube	muscle
22	chr4:8502800-8505800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:8502800-8512800	Enhancers	Placenta	Placenta
24	chr4:8503000-8505400	Enhancers	HSMM	muscle
25	chr4:8503000-8506800	Enhancers	Brain Hippocampus Middle	brain
26	chr4:8503600-8509400	Enhancers	Right Ventricle	heart
27	chr4:8503600-8509800	Enhancers	Adipose Nuclei	Adipose
28	chr4:8503800-8505800	Enhancers	Fetal Lung	lung
29	chr4:8504000-8504600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr4:8504000-8504600	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr4:8504000-8506200	Enhancers	Fetal Heart	heart
32	chr4:8504200-8504600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:8504200-8504800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:8504200-8504800	Enhancers	Esophagus	oesophagus
35	chr4:8504200-8505200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:8504200-8506200	Enhancers	Fetal Brain Male	brain
37	chr4:8504200-8506400	Enhancers	Left Ventricle	heart
38	chr4:8504200-8506400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr4:8504200-8506600	Enhancers	Pancreas	Pancrea
40	chr4:8504200-8509000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr4:8504200-8509400	Enhancers	Right Atrium	heart
42	chr4:8504200-8510600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:8504400-8504600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:8504400-8504600	Enhancers	Fetal Intestine Large	intestine
45	chr4:8504400-8504600	Enhancers	Fetal Kidney	kidney
46	chr4:8504400-8504600	Bivalent Enhancer	NH-A	brain
47	chr4:8504400-8504800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:8504400-8504800	Bivalent Enhancer	Fetal Stomach	stomach
49	chr4:8504400-8505000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr4:8504400-8505200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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