Variant report

Variant	nsv527362
Chromosome Location	chr12:104029462-104038974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104025253..104027244-chr12:104037198..104039505,2	MCF-7	breast:
2	chr12:104031257..104033295-chr12:104039042..104040756,2	K562	blood:
3	chr12:104026094..104026958-chr12:104035452..104036525,4	MCF-7	breast:

Extended variants
information (count: 407 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11111689	chr12:104029462-104029463	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577208131	chr12:104029494-104029495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs151201301	chr12:104029554-104029555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs560512918	chr12:104029559-104029560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs187721523	chr12:104029561-104029562	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs528037612	chr12:104029617-104029618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558863377	chr12:104029681-104029682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192717048	chr12:104029714-104029715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375555724	chr12:104029716-104029717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373738205	chr12:104029740-104029741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561096740	chr12:104029747-104029748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574473416	chr12:104029755-104029756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539997943	chr12:104029760-104029761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184157045	chr12:104029782-104029783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552596774	chr12:104029789-104029790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189233333	chr12:104029801-104029802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531963536	chr12:104029804-104029805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545802264	chr12:104029852-104029853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181551940	chr12:104029868-104029869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541623783	chr12:104029877-104029878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111955753	chr12:104029884-104029885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145570978	chr12:104029892-104029893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570766686	chr12:104029908-104029909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568360653	chr12:104029921-104029922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374818032	chr12:104029940-104029941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146772878	chr12:104029949-104029950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559657820	chr12:104029951-104029952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530439473	chr12:104029955-104029956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369530874	chr12:104029964-104029965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185034016	chr12:104029968-104029969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565737805	chr12:104029970-104029971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567882002	chr12:104029974-104029975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369111155	chr12:104029977-104029978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536811079	chr12:104029982-104029983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs831431	chr12:104029996-104029997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs554796788	chr12:104030000-104030001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574508711	chr12:104030002-104030003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540428021	chr12:104030027-104030028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376480450	chr12:104030031-104030032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576884767	chr12:104030040-104030041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11111690	chr12:104030041-104030042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553973273	chr12:104030046-104030047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138238787	chr12:104030071-104030072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149609465	chr12:104030120-104030121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542157071	chr12:104030179-104030180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565740931	chr12:104030225-104030226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562053480	chr12:104030240-104030241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539580161	chr12:104030274-104030275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78712116	chr12:104030276-104030277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547986572	chr12:104030286-104030287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Acute lymphoblastic leukemia	21339820	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104023600-104033800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:104027000-104037200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:104028800-104029600	ZNF genes & repeats	Spleen	Spleen
4	chr12:104029600-104031600	Weak transcription	Spleen	Spleen
5	chr12:104030200-104032200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:104030400-104031400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:104030800-104031000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:104030800-104031200	Enhancers	Brain Germinal Matrix	brain
9	chr12:104031600-104033200	Strong transcription	Spleen	Spleen
10	chr12:104033200-104062200	Weak transcription	Spleen	Spleen
11	chr12:104033800-104034200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:104033800-104034200	ZNF genes & repeats	GM12878-XiMat	blood
13	chr12:104034200-104035200	Flanking Active TSS	GM12878-XiMat	blood
14	chr12:104034200-104040600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:104034400-104034600	Enhancers	Colon Smooth Muscle	Colon
16	chr12:104034400-104035400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:104034400-104035400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:104035200-104035400	Enhancers	GM12878-XiMat	blood
19	chr12:104035600-104036000	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:104036000-104036600	Enhancers	HepG2	liver
21	chr12:104036000-104036800	Enhancers	Stomach Smooth Muscle	stomach
22	chr12:104036200-104037400	Enhancers	Colon Smooth Muscle	Colon
23	chr12:104036200-104037400	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:104036400-104036600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:104036800-104037400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:104037200-104037400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:104037400-104038400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:104037400-104038800	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:104037400-104039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:104038400-104039600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:104038400-104041600	Enhancers	Rectal Smooth Muscle	rectum
32	chr12:104038600-104039600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:104038800-104039000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:104038800-104041400	Enhancers	Colon Smooth Muscle	Colon
35	chr12:104038800-104042000	Enhancers	HSMM	muscle

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