Variant report

Variant	rs548924283
Chromosome Location	chr4:8321334-8321335
allele	C/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	MAX	chr4:8321328-8321722	NB4	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000248986	TF binding region
ENSG00000249145	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	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
8	esv3324716	chr4:8320952-8325250	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8317600-8322800	Weak transcription	Fetal Kidney	kidney
2	chr4:8317600-8323000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:8317800-8326200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr4:8318000-8321400	Weak transcription	Fetal Lung	lung
5	chr4:8318000-8321800	Weak transcription	Esophagus	oesophagus
6	chr4:8318000-8322000	Weak transcription	Spleen	Spleen
7	chr4:8318200-8321400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:8318200-8321800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:8318200-8322000	Weak transcription	Fetal Intestine Large	intestine
10	chr4:8318200-8322000	Weak transcription	Lung	lung
11	chr4:8318400-8321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:8318600-8324200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:8318600-8325000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:8319000-8321600	Weak transcription	HSMM	muscle
15	chr4:8319000-8321600	Weak transcription	HSMMtube	muscle
16	chr4:8319200-8321400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:8319200-8321600	Weak transcription	Fetal Thymus	thymus
18	chr4:8319200-8324200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:8319200-8326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:8319400-8321400	Weak transcription	Colonic Mucosa	Colon
21	chr4:8319400-8324200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:8320600-8322400	Enhancers	Right Atrium	heart
23	chr4:8320600-8323000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:8320800-8321800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:8320800-8322400	Enhancers	Fetal Muscle Trunk	muscle
26	chr4:8320800-8322400	Enhancers	Left Ventricle	heart
27	chr4:8320800-8322400	Enhancers	Ovary	ovary
28	chr4:8320800-8322400	Enhancers	Right Ventricle	heart
29	chr4:8320800-8322600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:8320800-8322600	Enhancers	Fetal Muscle Leg	muscle
31	chr4:8320800-8323200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:8320800-8323400	Enhancers	Colon Smooth Muscle	Colon
33	chr4:8321000-8321400	Enhancers	Stomach Smooth Muscle	stomach
34	chr4:8321000-8322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:8321000-8322200	Enhancers	Adipose Nuclei	Adipose
36	chr4:8321000-8322400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:8321000-8322400	Enhancers	HMEC	breast
38	chr4:8321000-8322600	Enhancers	Fetal Stomach	stomach
39	chr4:8321000-8323000	Enhancers	Rectal Smooth Muscle	rectum
40	chr4:8321200-8321400	Enhancers	Fetal Heart	heart
41	chr4:8321200-8321400	Weak transcription	Psoas Muscle	Psoas
42	chr4:8321200-8321400	Enhancers	NHDF-Ad	bronchial
43	chr4:8321200-8322000	Enhancers	Primary hematopoietic stem cells	blood
44	chr4:8321200-8322200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:8321200-8322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:8321200-8322200	Enhancers	NHEK	skin
47	chr4:8321200-8322400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:8321200-8322400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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