Variant report

Variant	nsv438195
Chromosome Location	chr12:21068337-21163599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:21099355..21100332-chr12:21322634..21323175,3	MCF-7	breast:
2	chr12:21154478..21155199-chr12:21322720..21323314,2	MCF-7	breast:
3	chr12:21102918..21103853-chr12:21322562..21323307,3	MCF-7	breast:
4	chr12:21099420..21100309-chr12:21218592..21219170,2	MCF-7	breast:
5	chr12:21099378..21100255-chr12:21322524..21323110,2	MCF-7	breast:
6	chr12:21103010..21104123-chr12:21218514..21219449,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO1A2-5	chr12:21083248-21084757	NONHSAT027238

No data

Extended variants
information (count: 2673 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2673 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1549970	chr12:21068337-21068338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183177476	chr12:21068382-21068383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546032390	chr12:21068432-21068433	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188533890	chr12:21068499-21068500	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374216337	chr12:21068512-21068513	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527814981	chr12:21068539-21068540	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141767975	chr12:21068585-21068586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552173938	chr12:21068614-21068615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568872762	chr12:21068641-21068642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376794283	chr12:21068652-21068653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369093842	chr12:21068657-21068658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567497019	chr12:21068668-21068669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116104424	chr12:21068674-21068675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147214216	chr12:21068678-21068679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369243066	chr12:21068688-21068689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538690147	chr12:21068691-21068692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193148763	chr12:21068692-21068693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11045597	chr12:21068699-21068700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184787412	chr12:21068701-21068702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555291897	chr12:21068722-21068723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531369340	chr12:21068730-21068731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547967813	chr12:21068742-21068743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561075817	chr12:21068829-21068830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376179341	chr12:21068831-21068832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540447779	chr12:21068834-21068835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12822208	chr12:21068848-21068849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75699460	chr12:21068883-21068884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545846824	chr12:21068912-21068913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78862986	chr12:21068915-21068916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374608664	chr12:21068936-21068937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200412791	chr12:21068947-21068948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs267603413	chr12:21068953-21068954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376393874	chr12:21068981-21068982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370819902	chr12:21068989-21068990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374189599	chr12:21068994-21068995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550497909	chr12:21068996-21068997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556554798	chr12:21069011-21069012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200774414	chr12:21069015-21069016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561006699	chr12:21069016-21069017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371574727	chr12:21069036-21069037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200539697	chr12:21069048-21069049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60571683	chr12:21069049-21069050	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs367827357	chr12:21069054-21069055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371725645	chr12:21069060-21069061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs267603414	chr12:21069074-21069075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566619114	chr12:21069081-21069082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377270851	chr12:21069113-21069114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538452274	chr12:21069147-21069148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72559744	chr12:21069155-21069156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143038862	chr12:21069162-21069163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21058200-21068400	Weak transcription	Liver	Liver
2	chr12:21058400-21080400	Weak transcription	A549	lung
3	chr12:21068400-21068600	Strong transcription	Liver	Liver
4	chr12:21068600-21069800	Weak transcription	Liver	Liver
5	chr12:21069800-21070000	Genic enhancers	Liver	Liver
6	chr12:21070000-21070200	Enhancers	Liver	Liver
7	chr12:21070200-21070400	Flanking Active TSS	Liver	Liver
8	chr12:21070400-21070600	Enhancers	Liver	Liver
9	chr12:21070600-21080600	Weak transcription	Liver	Liver
10	chr12:21080400-21080800	ZNF genes & repeats	A549	lung
11	chr12:21080600-21081000	ZNF genes & repeats	Liver	Liver
12	chr12:21081000-21103400	Weak transcription	Liver	Liver
13	chr12:21084800-21085200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:21098200-21098600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:21103400-21103600	ZNF genes & repeats	Liver	Liver
16	chr12:21107800-21108600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:21114400-21115200	ZNF genes & repeats	Liver	Liver
18	chr12:21115200-21115800	Weak transcription	Liver	Liver
19	chr12:21115800-21116600	Enhancers	Liver	Liver
20	chr12:21116600-21116800	Flanking Active TSS	Liver	Liver
21	chr12:21116800-21117000	Enhancers	Liver	Liver
22	chr12:21117000-21117200	Flanking Active TSS	Liver	Liver
23	chr12:21117200-21118600	Enhancers	Liver	Liver
24	chr12:21118600-21119000	Weak transcription	Liver	Liver
25	chr12:21119000-21123000	Enhancers	Liver	Liver
26	chr12:21125200-21125600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:21138000-21139200	Enhancers	Dnd41	blood
28	chr12:21138200-21145200	Weak transcription	Liver	Liver
29	chr12:21142800-21143000	ZNF genes & repeats	Gastric	stomach
30	chr12:21145200-21146400	ZNF genes & repeats	Liver	Liver
31	chr12:21146400-21154400	Weak transcription	Liver	Liver
32	chr12:21154400-21155000	ZNF genes & repeats	Liver	Liver
33	chr12:21154800-21155000	Enhancers	Gastric	stomach
34	chr12:21155000-21156800	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links