Variant report

Variant	esv3411524
Chromosome Location	chr12:8957209-8964599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 316 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59665567	chr12:8957238-8957239	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs58359568	chr12:8957239-8957240	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs60256770	chr12:8957373-8957374	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189119695	chr12:8957401-8957402	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200761317	chr12:8957418-8957419	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543703149	chr12:8957432-8957433	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs200920834	chr12:8957438-8957439	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs60489696	chr12:8957450-8957451	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs12300916	chr12:8957511-8957512	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs117344034	chr12:8957518-8957519	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs181159119	chr12:8957519-8957520	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7311024	chr12:8957563-8957564	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138956231	chr12:8957693-8957694	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149496256	chr12:8957709-8957710	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7296377	chr12:8957717-8957718	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs200125940	chr12:8957786-8957787	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148620516	chr12:8957790-8957791	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7310379	chr12:8957812-8957813	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7299831	chr12:8957827-8957828	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184715487	chr12:8957867-8957868	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201535814	chr12:8957874-8957875	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7310498	chr12:8957889-8957890	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189575451	chr12:8957903-8957904	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180758482	chr12:8957909-8957910	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10842299	chr12:8957921-8957922	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs202245938	chr12:8957924-8957925	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186005346	chr12:8957942-8957943	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567922184	chr12:8957985-8957986	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533248079	chr12:8958024-8958025	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10771071	chr12:8958107-8958108	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536462515	chr12:8958149-8958150	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139569144	chr12:8958181-8958182	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535600161	chr12:8958185-8958186	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149806581	chr12:8958207-8958208	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374715198	chr12:8958214-8958215	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371272937	chr12:8958215-8958216	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374829720	chr12:8958243-8958244	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369287834	chr12:8958266-8958267	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7303502	chr12:8958282-8958283	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190959182	chr12:8958294-8958295	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558679134	chr12:8958295-8958296	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182090702	chr12:8958330-8958331	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76611907	chr12:8958349-8958350	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566162973	chr12:8958353-8958354	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571956769	chr12:8958395-8958396	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371488486	chr12:8958451-8958452	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200441976	chr12:8958462-8958463	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148933481	chr12:8958475-8958476	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142745362	chr12:8958477-8958478	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148640443	chr12:8958494-8958495	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8945200-8958000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:8947600-8961800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:8947800-8958200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:8949000-8962600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:8950000-8958200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:8950000-8958800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:8955800-8958200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:8956000-8957600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:8956400-8958200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:8956800-8959800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:8957000-8963000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:8957600-8957800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:8957600-8958400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr12:8957600-8958400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:8957600-8961200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:8957800-8962400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:8958000-8959000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:8958200-8958400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:8958200-8958600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:8958200-8959200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:8958200-8960000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr12:8958200-8960200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:8958400-8959800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:8958400-8959800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:8958600-8962000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:8958800-8959400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr12:8958800-8961400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:8959000-8959200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr12:8959200-8959800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:8959200-8961800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:8959400-8960000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:8959400-8962000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:8959800-8960000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr12:8959800-8960000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
35	chr12:8959800-8960000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:8959800-8960200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr12:8959800-8960400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:8960000-8961400	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr12:8960000-8972000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:8960200-8962000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:8960200-8962600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:8960400-8961200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:8961000-8961400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:8961000-8963400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:8961200-8961400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:8961200-8962000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:8961400-8961800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:8961400-8962000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:8961400-8966600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr12:8961400-8969200	Weak transcription	Primary monocytes fromperipheralblood	blood

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