Variant report

Variant	nsv560052
Chromosome Location	chr12:105155815-105157975
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	chr12:105156899..105157460-chr12:105169554..105170172,2	MCF-7	breast:
2	chr12:105154675..105157648-chr12:105161416..105163979,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7488439	chr12:105155815-105155816	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371380799	chr12:105155824-105155825	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543945303	chr12:105155841-105155842	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574290115	chr12:105155877-105155878	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563622959	chr12:105155878-105155879	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139037340	chr12:105155886-105155887	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183205903	chr12:105155917-105155918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12307007	chr12:105155923-105155924	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs114832591	chr12:105155927-105155928	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560412826	chr12:105155946-105155947	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188264435	chr12:105155955-105155956	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564899466	chr12:105155975-105155976	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs36001868	chr12:105156005-105156006	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530420653	chr12:105156011-105156012	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550690413	chr12:105156041-105156042	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113366878	chr12:105156063-105156064	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567005865	chr12:105156072-105156073	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536068944	chr12:105156123-105156124	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75944730	chr12:105156190-105156191	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566294570	chr12:105156197-105156198	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538553387	chr12:105156201-105156202	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558575383	chr12:105156297-105156298	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55905284	chr12:105156298-105156299	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554315828	chr12:105156323-105156324	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11307984	chr12:105156324-105156325	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79505328	chr12:105156341-105156342	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76801834	chr12:105156345-105156346	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537037843	chr12:105156348-105156349	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557458549	chr12:105156372-105156373	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574204958	chr12:105156373-105156374	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528018012	chr12:105156395-105156396	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12320918	chr12:105156452-105156453	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12307301	chr12:105156482-105156483	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs146189068	chr12:105156535-105156536	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12320887	chr12:105156544-105156545	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139001912	chr12:105156553-105156554	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149907522	chr12:105156564-105156565	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543839779	chr12:105156582-105156583	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143915771	chr12:105156598-105156599	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114916288	chr12:105156627-105156628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148637645	chr12:105156707-105156708	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192551752	chr12:105156742-105156743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185338726	chr12:105156753-105156754	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187428793	chr12:105156756-105156757	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569038098	chr12:105156763-105156764	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538118081	chr12:105156778-105156779	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61587191	chr12:105156779-105156780	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567624976	chr12:105156802-105156803	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111478627	chr12:105156821-105156822	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144457837	chr12:105156823-105156824	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105137200-105157000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:105142400-105160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:105142600-105158000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:105142800-105158200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:105143800-105156800	Weak transcription	NHLF	lung
6	chr12:105143800-105160800	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:105144000-105158200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:105144200-105156800	Weak transcription	NHDF-Ad	bronchial
9	chr12:105144200-105157000	Weak transcription	NH-A	brain
10	chr12:105144200-105158000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:105145200-105158200	Weak transcription	Adipose Nuclei	Adipose
12	chr12:105145400-105161200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:105145600-105162800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:105145800-105161200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:105145800-105161200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:105145800-105161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:105146000-105161400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:105146800-105156000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:105146800-105161200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:105148400-105156000	Weak transcription	Pancreas	Pancrea
21	chr12:105149600-105157000	Weak transcription	HMEC	breast
22	chr12:105150000-105156000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:105151400-105156600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:105151400-105156800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:105151400-105158400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:105151400-105161200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:105151600-105156000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:105151600-105156800	Weak transcription	GM12878-XiMat	blood
29	chr12:105151600-105157000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:105151600-105157000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:105151600-105157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:105151600-105157000	Weak transcription	A549	lung
33	chr12:105151600-105157400	Weak transcription	HSMMtube	muscle
34	chr12:105151600-105158400	Weak transcription	Ovary	ovary
35	chr12:105151600-105160800	Weak transcription	Esophagus	oesophagus
36	chr12:105151600-105161800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:105151600-105162800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:105151800-105157000	Weak transcription	Osteobl	bone
39	chr12:105152200-105158000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:105152400-105162600	Weak transcription	Brain Anterior Caudate	brain
41	chr12:105152600-105158000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:105152600-105158400	Weak transcription	Placenta	Placenta
43	chr12:105152800-105157000	Weak transcription	Spleen	Spleen
44	chr12:105153000-105156200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:105153000-105156400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:105153000-105156800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:105153000-105157000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:105153000-105157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:105153000-105157000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:105153000-105157000	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links