Variant report

Variant	rs530880242
Chromosome Location	chr5:5497096-5497097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:5497029..5497914-chr5:6525976..6526639,2	MCF-7	breast:
2	chr5:5497053..5497738-chr5:5886888..5887554,2	MCF-7	breast:
3	chr5:5497022..5497900-chr5:6745484..6746132,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112941	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	esv2757981	chr5:5447098-5764620	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2759319	chr5:5447098-5764620	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv3411514	chr5:5495732-5497984	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1008476	chr5:5495880-5497926	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3471522	chr5:5495931-5497962	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3471523	chr5:5495931-5497962	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv995745	chr5:5496080-5497822	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5477200-5497600	Weak transcription	Brain Angular Gyrus	brain
2	chr5:5482800-5497600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:5490600-5497200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:5490600-5497600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:5492800-5497400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:5494800-5497200	Weak transcription	HMEC	breast
7	chr5:5494800-5503800	Weak transcription	GM12878-XiMat	blood
8	chr5:5495200-5497200	Weak transcription	Brain Anterior Caudate	brain
9	chr5:5495200-5498400	Enhancers	Brain Germinal Matrix	brain
10	chr5:5495400-5497200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:5495400-5497200	Weak transcription	Liver	Liver
12	chr5:5495400-5497200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr5:5495400-5497200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:5495400-5497600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:5495400-5497600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:5495400-5497800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr5:5495600-5497200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:5495600-5497200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:5496000-5497200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:5496000-5497600	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:5496200-5497600	Enhancers	Brain Substantia Nigra	brain
22	chr5:5496200-5497600	Weak transcription	Psoas Muscle	Psoas
23	chr5:5496400-5497200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr5:5496400-5497800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:5496400-5498000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:5496400-5498000	Enhancers	Fetal Brain Female	brain
27	chr5:5496600-5497200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr5:5496600-5497200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr5:5496600-5497400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:5496600-5497800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:5496800-5497200	Weak transcription	Adipose Nuclei	Adipose
32	chr5:5496800-5497200	Weak transcription	Fetal Brain Male	brain
33	chr5:5496800-5497400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
34	chr5:5496800-5497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:5496800-5498600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:5497000-5497400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr5:5497000-5497800	Enhancers	Colon Smooth Muscle	Colon
38	chr5:5497000-5498000	Enhancers	Cortex derived primary cultured neurospheres	brain

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