Variant report

Variant	rs416178
Chromosome Location	chr5:7850831-7850832
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	ZBTB7A	chr5:7850284-7851608	ECC-1	luminal epithelium:	n/a	chr5:7850373-7850382
2	ZBTB7A	chr5:7850762-7851640	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr5:7850818-7851708	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr5:7850804-7851411	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:7850811-7851315	ECC-1	luminal epithelium:	n/a	n/a
6	MXI1	chr5:7850820-7851633	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7849253..7853514-chr5:7868734..7871211,5	MCF-7	breast:
2	chr5:7843515..7845259-chr5:7848179..7851160,2	MCF-7	breast:

Variant related genes	Relation type
MTRR	TF binding region
ENSG00000124275	Chromatin interaction
ENSG00000124279	Chromatin interaction

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	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv461927	chr5:7757812-7854289	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv597004	chr5:7757812-7854289	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3436798	chr5:7849477-7852325	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3440712	chr5:7849552-7852150	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7849000-7851000	Weak transcription	HSMM	muscle
2	chr5:7849600-7851400	Active TSS	Brain Angular Gyrus	brain
3	chr5:7849600-7851800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr5:7849600-7851800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr5:7849800-7851000	Enhancers	Lung	lung
6	chr5:7849800-7851200	Active TSS	Ovary	ovary
7	chr5:7849800-7851200	Active TSS	Right Atrium	heart
8	chr5:7849800-7851400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr5:7849800-7851400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:7849800-7851400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr5:7849800-7851400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:7849800-7851400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:7849800-7851400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:7849800-7851600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:7849800-7851600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:7849800-7851600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:7849800-7851600	Bivalent/Poised TSS	A549	lung
18	chr5:7849800-7851800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr5:7849800-7852000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:7849800-7852000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:7850000-7851000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
22	chr5:7850000-7851200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr5:7850000-7851200	Active TSS	Aorta	Aorta
24	chr5:7850000-7851400	Active TSS	Esophagus	oesophagus
25	chr5:7850000-7851400	Active TSS	HepG2	liver
26	chr5:7850000-7851600	Active TSS	H1 Cell Line	embryonic stem cell
27	chr5:7850000-7851600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr5:7850000-7851600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr5:7850000-7851600	Active TSS	Brain Cingulate Gyrus	brain
30	chr5:7850000-7851600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:7850000-7851600	Active TSS	Brain Substantia Nigra	brain
32	chr5:7850000-7851600	Active TSS	Fetal Brain Female	brain
33	chr5:7850000-7851800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:7850000-7851800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr5:7850000-7852200	Active TSS	Brain Anterior Caudate	brain
36	chr5:7850000-7852200	Active TSS	Fetal Kidney	kidney
37	chr5:7850000-7852400	Enhancers	Spleen	Spleen
38	chr5:7850200-7851000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:7850200-7851000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:7850200-7851000	Enhancers	Liver	Liver
41	chr5:7850200-7851000	Active TSS	Pancreas	Pancrea
42	chr5:7850200-7851200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr5:7850200-7851200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr5:7850200-7851200	Active TSS	Brain Hippocampus Middle	brain
45	chr5:7850200-7851400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr5:7850200-7851400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:7850200-7851400	Weak transcription	Fetal Heart	heart
48	chr5:7850200-7851400	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr5:7850200-7851400	Active TSS	Placenta Amnion	Placenta Amnion
50	chr5:7850200-7851400	Bivalent/Poised TSS	Thymus	Thymus

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