Variant report

Variant	esv19017
Chromosome Location	chr12:31506912-31508858
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	chr12:31477383..31479445-chr12:31506370..31509991,4	MCF-7	breast:
2	chr12:31502370..31504530-chr12:31506111..31508643,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139146	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150920514	chr12:31506924-31506925	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs527713004	chr12:31506956-31506957	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567509486	chr12:31506969-31506970	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372352744	chr12:31506999-31507000	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35372123	chr12:31507043-31507044	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536537376	chr12:31507112-31507113	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550130236	chr12:31507113-31507114	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569946318	chr12:31507154-31507155	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538611583	chr12:31507187-31507188	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111403247	chr12:31507210-31507211	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572442670	chr12:31507211-31507212	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77284013	chr12:31507242-31507243	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149684869	chr12:31507245-31507246	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574719816	chr12:31507295-31507296	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145502058	chr12:31507297-31507298	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563796293	chr12:31507326-31507327	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141265323	chr12:31507384-31507385	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562320389	chr12:31507386-31507387	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555594701	chr12:31507427-31507428	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146748604	chr12:31507440-31507441	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs377154942	chr12:31507464-31507465	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112430652	chr12:31507469-31507470	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527375222	chr12:31507496-31507497	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7135794	chr12:31507543-31507544	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141810018	chr12:31507561-31507562	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529889975	chr12:31507641-31507642	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2049125	chr12:31507811-31507812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143825513	chr12:31507828-31507829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538968855	chr12:31507835-31507836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181622703	chr12:31507855-31507856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552277734	chr12:31507892-31507893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148078240	chr12:31507897-31507898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534773001	chr12:31507907-31507908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529767089	chr12:31507929-31507930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186018959	chr12:31507931-31507932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11051401	chr12:31507944-31507945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs57061710	chr12:31507983-31507984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557536065	chr12:31507984-31507985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs117693337	chr12:31507986-31507987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs6487987	chr12:31508019-31508020	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558253379	chr12:31508063-31508064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533577798	chr12:31508066-31508067	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138794312	chr12:31508067-31508068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570859488	chr12:31508072-31508073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529759413	chr12:31508076-31508077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541051504	chr12:31508083-31508084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560922156	chr12:31508099-31508100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7959964	chr12:31508136-31508137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188814423	chr12:31508137-31508138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567791189	chr12:31508148-31508149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Myelodysplastic syndrome	21251322	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
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31480000-31522800	Weak transcription	Right Atrium	heart
2	chr12:31500200-31513600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:31500600-31515400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:31506400-31507800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:31506400-31509200	Enhancers	Fetal Intestine Large	intestine
6	chr12:31506400-31509200	Enhancers	Fetal Intestine Small	intestine
7	chr12:31506600-31507000	Enhancers	Brain Cingulate Gyrus	brain
8	chr12:31506600-31507200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:31506600-31507200	Active TSS	Fetal Brain Male	brain
10	chr12:31506600-31507200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:31506600-31507400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:31506600-31507400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:31506600-31507400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:31506600-31507400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:31506600-31507400	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:31506600-31507400	Enhancers	Brain Angular Gyrus	brain
17	chr12:31506600-31507400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:31506600-31507400	Enhancers	Fetal Kidney	kidney
19	chr12:31506600-31507400	Enhancers	Fetal Lung	lung
20	chr12:31506600-31507600	Enhancers	Brain Substantia Nigra	brain
21	chr12:31506600-31507800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:31506600-31507800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:31506600-31509400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr12:31506800-31507000	Active TSS	Fetal Brain Female	brain
25	chr12:31506800-31507000	Active TSS	HepG2	liver
26	chr12:31506800-31507200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:31506800-31507200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr12:31506800-31507200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:31506800-31507200	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr12:31506800-31507200	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr12:31506800-31507200	Active TSS	Brain Hippocampus Middle	brain
32	chr12:31506800-31507200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr12:31506800-31507200	Enhancers	Fetal Muscle Leg	muscle
34	chr12:31506800-31507200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr12:31506800-31507200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr12:31506800-31507400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:31506800-31507400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:31506800-31507600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr12:31506800-31507600	Enhancers	Colonic Mucosa	Colon
40	chr12:31506800-31507800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:31506800-31507800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:31506800-31508000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:31507000-31507200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:31507000-31507200	Flanking Active TSS	Fetal Brain Female	brain
45	chr12:31507000-31507200	Flanking Active TSS	HepG2	liver
46	chr12:31507000-31507400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:31507000-31507400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:31507000-31507400	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr12:31507000-31507400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:31507000-31507600	Enhancers	HUES48 Cell Line	embryonic stem cell

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