Variant report

Variant	rs575919050
Chromosome Location	chr12:40497265-40497266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40495644..40497821-chr12:40498343..40500336,2	MCF-7	breast:
2	chr12:40494859..40496427-chr12:40496570..40499467,2	MCF-7	breast:
3	chr11:62607295..62609623-chr12:40497021..40499693,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133316	Chromatin interaction
ENSG00000151229	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899028	chr12:40478652-40524180	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv899029	chr12:40478652-40536061	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1816874	chr12:40492814-40499934	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
5	esv1822895	chr12:40492814-40499934	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
6	esv1838004	chr12:40492814-40499934	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
7	esv1841992	chr12:40492814-40499934	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
8	esv1850635	chr12:40492814-40499934	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
9	esv1836585	chr12:40492814-40540939	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1839483	chr12:40492814-40540939	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1839896	chr12:40493591-40499908	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
12	esv1834762	chr12:40496733-40499934	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
13	esv1799112	chr12:40497095-40499908	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
14	esv1840625	chr12:40497095-40499908	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40466400-40498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40476400-40497400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:40476600-40498400	Weak transcription	Fetal Stomach	stomach
4	chr12:40476800-40497800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:40482000-40497800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:40487000-40497400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:40488200-40498600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:40492400-40498600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:40492800-40497600	Weak transcription	Left Ventricle	heart
10	chr12:40492800-40498000	Weak transcription	Gastric	stomach
11	chr12:40492800-40498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:40492800-40498600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:40492800-40498600	Weak transcription	Lung	lung
14	chr12:40493800-40497400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:40493800-40497400	Weak transcription	Fetal Heart	heart
16	chr12:40494200-40498000	Weak transcription	Fetal Lung	lung
17	chr12:40494200-40498200	Weak transcription	A549	lung
18	chr12:40494600-40498000	Weak transcription	NHLF	lung
19	chr12:40495200-40497400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:40495400-40498000	Enhancers	Small Intestine	intestine
21	chr12:40495800-40497600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:40495800-40497600	Enhancers	Colon Smooth Muscle	Colon
23	chr12:40496400-40497800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:40496600-40497800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr12:40496800-40497400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:40496800-40497400	Enhancers	Fetal Intestine Small	intestine
27	chr12:40496800-40497600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:40496800-40497600	Enhancers	Fetal Intestine Large	intestine
29	chr12:40496800-40497800	Enhancers	HepG2	liver
30	chr12:40496800-40498400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:40496800-40498600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:40496800-40498600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:40496800-40499000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr12:40496800-40500400	Active TSS	Stomach Smooth Muscle	stomach
35	chr12:40496800-40501600	Active TSS	Brain Cingulate Gyrus	brain
36	chr12:40496800-40501600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:40496800-40501600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr12:40497000-40497400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:40497000-40497400	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr12:40497000-40497400	Enhancers	Right Atrium	heart
41	chr12:40497000-40497600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:40497000-40497800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:40497000-40497800	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr12:40497000-40497800	Enhancers	Fetal Brain Male	brain
45	chr12:40497000-40498000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:40497000-40498000	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr12:40497000-40498200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:40497000-40498200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:40497000-40498200	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr12:40497000-40498400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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