Variant report

Variant	rs537172472
Chromosome Location	chr2:11678157-11678158
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	POLR2A	chr2:11678054-11678183	ProgFib	skin:	n/a	n/a
2	MAFK	chr2:11678015-11678172	HepG2	liver:	n/a	chr2:11678097-11678111
3	POLR2A	chr2:11678151-11678324	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11269728..11273923-chr2:11678087..11684060,5	MCF-7	breast:
2	chr10:123871436..123873974-chr2:11678144..11680211,2	MCF-7	breast:
3	chr2:10861240..10863397-chr2:11676243..11678247,2	MCF-7	breast:

Variant related genes	Relation type
GREB1	TF binding region
ENSG00000138162	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000143882	Chromatin interaction
ENSG00000150873	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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3439617	chr2:11677926-11680474	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11671200-11679600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:11671400-11679200	Weak transcription	Right Atrium	heart
3	chr2:11672400-11678200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:11672400-11679400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:11672400-11679800	Enhancers	Pancreas	Pancrea
6	chr2:11672800-11679400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:11673000-11679600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:11673600-11679400	Weak transcription	Brain Angular Gyrus	brain
9	chr2:11673600-11679400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:11673600-11679400	Enhancers	Ovary	ovary
11	chr2:11674000-11679400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:11674400-11679200	Weak transcription	Liver	Liver
13	chr2:11674400-11679200	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:11674600-11679600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:11675400-11679600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:11675400-11679600	Weak transcription	Fetal Heart	heart
17	chr2:11676400-11679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:11676400-11679200	Weak transcription	Left Ventricle	heart
19	chr2:11676400-11679400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:11676400-11679600	Weak transcription	Psoas Muscle	Psoas
21	chr2:11676400-11681800	Weak transcription	Gastric	stomach
22	chr2:11676800-11678200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:11676800-11678200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:11676800-11679400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:11677600-11679200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:11677800-11678400	Genic enhancers	HepG2	liver
27	chr2:11678000-11678400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:11678000-11678400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:11678000-11678400	Enhancers	Right Ventricle	heart
30	chr2:11678000-11678600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:11678000-11678600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:11678000-11678600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:11678000-11678600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:11678000-11678600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:11678000-11683200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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