Variant report

Variant	esv3344698
Chromosome Location	chr12:32558775-32559374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32552514..32555337-chr12:32557035..32560074,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139132	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531265670	chr12:32558806-32558807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539074675	chr12:32558823-32558824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558986454	chr12:32558831-32558832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182632002	chr12:32558906-32558907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7315762	chr12:32558932-32558933	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs554882270	chr12:32558939-32558940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185447155	chr12:32558963-32558964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7315797	chr12:32558994-32558995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs533774923	chr12:32559002-32559003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575724667	chr12:32559003-32559004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544651583	chr12:32559050-32559051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564516711	chr12:32559068-32559069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4931623	chr12:32559119-32559120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs376681414	chr12:32559123-32559124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560927783	chr12:32559155-32559156	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369704002	chr12:32559164-32559165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113599948	chr12:32559167-32559168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111525125	chr12:32559227-32559228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570208766	chr12:32559235-32559236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551580495	chr12:32559259-32559260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182602883	chr12:32559290-32559291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552635644	chr12:32559349-32559350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369044172	chr12:32559360-32559361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32553400-32572200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:32553400-32572200	Weak transcription	HSMMtube	muscle
3	chr12:32553400-32572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:32553600-32572600	Weak transcription	Esophagus	oesophagus
5	chr12:32553800-32571600	Weak transcription	Left Ventricle	heart
6	chr12:32554000-32572200	Weak transcription	Right Ventricle	heart
7	chr12:32554200-32559600	Weak transcription	A549	lung
8	chr12:32554200-32561200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:32554200-32566400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:32554200-32571800	Weak transcription	Ovary	ovary
11	chr12:32554200-32573800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:32554400-32559800	Weak transcription	Psoas Muscle	Psoas
13	chr12:32554600-32572400	Weak transcription	Fetal Intestine Large	intestine
14	chr12:32554600-32593200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:32555400-32571400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:32555400-32572000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:32555600-32571400	Weak transcription	Lung	lung
18	chr12:32556000-32571800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:32556200-32561600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:32556400-32561600	Weak transcription	Fetal Intestine Small	intestine
21	chr12:32556400-32562600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:32556400-32571600	Weak transcription	HMEC	breast
23	chr12:32556600-32561400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:32557000-32561400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:32557000-32563400	Weak transcription	Pancreas	Pancrea
26	chr12:32557200-32561400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:32557400-32561600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:32557400-32571200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:32557600-32560200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:32557600-32560400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:32557600-32561200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:32557600-32561600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:32557600-32563200	Weak transcription	NHEK	skin
34	chr12:32558200-32559200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr12:32558200-32559800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:32558400-32558800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:32558400-32558800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:32558400-32558800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:32558400-32559000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr12:32558400-32559200	Enhancers	Gastric	stomach
41	chr12:32558600-32558800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr12:32558600-32558800	Enhancers	Adipose Nuclei	Adipose
43	chr12:32558600-32561400	Weak transcription	Stomach Mucosa	stomach
44	chr12:32558800-32560200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:32558800-32562800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:32558800-32566400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:32559000-32559400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:32559200-32561400	Weak transcription	Gastric	stomach
49	chr12:32559200-32571200	Weak transcription	H1 Cell Line	embryonic stem cell

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