Variant report

Variant	nsv973012
Chromosome Location	chr12:7945335-7948375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200838938	chr12:7945346-7945347	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113795924	chr12:7945354-7945355	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11055786	chr12:7945384-7945385	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs145582892	chr12:7945407-7945408	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142208324	chr12:7945422-7945423	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs202147857	chr12:7945523-7945524	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370687941	chr12:7945531-7945532	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71445169	chr12:7945552-7945553	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386760025	chr12:7945558-7945559	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4294629	chr12:7945559-7945560	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs201427723	chr12:7945591-7945592	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199844601	chr12:7945606-7945607	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2889551	chr12:7945640-7945641	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs367909941	chr12:7945664-7945665	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4354764	chr12:7945670-7945671	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533764901	chr12:7945675-7945676	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375983497	chr12:7945681-7945682	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145906125	chr12:7945709-7945710	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370774570	chr12:7945747-7945748	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4438116	chr12:7945757-7945758	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373700728	chr12:7945764-7945765	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4242903	chr12:7945829-7945830	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs202120932	chr12:7945847-7945848	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs182340161	chr12:7945862-7945863	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs377664622	chr12:7945865-7945866	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs11831829	chr12:7945871-7945872	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11833344	chr12:7945906-7945907	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34261320	chr12:7945916-7945917	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs58791167	chr12:7945927-7945928	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149866120	chr12:7945967-7945968	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs376198978	chr12:7945970-7945971	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs145731236	chr12:7945989-7945990	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs373690977	chr12:7945995-7945996	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186916356	chr12:7946060-7946061	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377106724	chr12:7946062-7946063	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs114493334	chr12:7946096-7946097	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs11833258	chr12:7946097-7946098	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11833259	chr12:7946111-7946112	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73270925	chr12:7946128-7946129	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs58076472	chr12:7946149-7946150	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs59882698	chr12:7946224-7946225	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547732132	chr12:7946242-7946243	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs117906455	chr12:7946279-7946280	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541965548	chr12:7946352-7946353	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs115719284	chr12:7946393-7946394	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs148990439	chr12:7946397-7946398	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs111430686	chr12:7946435-7946436	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111734739	chr12:7946444-7946445	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139895178	chr12:7946454-7946455	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562537518	chr12:7946472-7946473	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	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
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Nasopharyngeal cancer	20548289	CNVD
Type 2 diabetes	21526130	CNVD
Autism	22495309	CNVD
Bipolar disorder	19214233	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7941200-7950000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:7942800-7947400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:7944000-7946200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:7944000-7953200	Weak transcription	Right Atrium	heart
5	chr12:7944200-7945400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
6	chr12:7944200-7950400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:7944400-7945400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
8	chr12:7944400-7945400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:7944400-7945800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr12:7944400-7950800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:7944600-7945400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
12	chr12:7944600-7945800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr12:7944800-7945400	Genic enhancers	H1 Cell Line	embryonic stem cell
14	chr12:7944800-7949800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:7945000-7947600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:7945200-7945400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:7945200-7945800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:7945200-7945800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:7945200-7946400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:7945200-7947200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:7945400-7945600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:7945400-7945800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:7945400-7946000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:7945400-7947200	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr12:7945400-7947200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:7945400-7947600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:7945600-7947600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:7945800-7946000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:7945800-7946200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr12:7945800-7946400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr12:7945800-7947000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:7945800-7947200	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr12:7946000-7946200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:7946000-7946600	Enhancers	Primary B cells from cord blood	blood
35	chr12:7946000-7947600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:7946200-7946800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr12:7946200-7947200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:7946200-7947400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:7946400-7947200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:7946400-7947400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr12:7946800-7949800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:7947000-7948600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:7947200-7948600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:7947200-7948600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:7947200-7948600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:7947200-7948600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:7947200-7950000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:7947200-7950400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:7947400-7949800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:7947400-7956800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links