Variant report

Variant	esv3324510
Chromosome Location	chr12:104969183-104970784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104969237..104970979-chr12:104994283..104996065,2	MCF-7	breast:
2	chr12:104962294..104965284-chr12:104969742..104971271,2	K562	blood:
3	chr12:104963784..104965838-chr12:104968298..104971242,2	K562	blood:
4	chr12:104970339..104972432-chr12:104974427..104977071,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552681759	chr12:104969188-104969189	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2665740	chr12:104969199-104969200	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569547058	chr12:104969208-104969209	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536326087	chr12:104969255-104969256	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150910496	chr12:104969267-104969268	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558684227	chr12:104969275-104969276	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114710351	chr12:104969296-104969297	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536737922	chr12:104969326-104969327	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190601593	chr12:104969365-104969366	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561158447	chr12:104969373-104969374	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529340293	chr12:104969411-104969412	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35348357	chr12:104969415-104969416	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139011736	chr12:104969417-104969418	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559910032	chr12:104969447-104969448	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528553285	chr12:104969475-104969476	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551694850	chr12:104969484-104969485	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181068485	chr12:104969493-104969494	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80049835	chr12:104969553-104969554	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186102956	chr12:104969560-104969561	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567600991	chr12:104969561-104969562	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386765958	chr12:104969563-104969564	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1650126	chr12:104969564-104969565	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147586578	chr12:104969574-104969575	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538685912	chr12:104969578-104969579	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142114950	chr12:104969618-104969619	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575438410	chr12:104969689-104969690	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544404610	chr12:104969733-104969734	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565141361	chr12:104969743-104969744	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189559422	chr12:104969772-104969773	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574759758	chr12:104969776-104969777	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374077837	chr12:104969795-104969796	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144309680	chr12:104969870-104969871	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559661298	chr12:104969878-104969879	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35505187	chr12:104969884-104969885	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528582851	chr12:104969897-104969898	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181246596	chr12:104969910-104969911	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565222782	chr12:104969961-104969962	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531165976	chr12:104969981-104969982	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61940027	chr12:104969983-104969984	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529941613	chr12:104970019-104970020	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561266766	chr12:104970099-104970100	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147813499	chr12:104970114-104970115	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111893239	chr12:104970183-104970184	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566416129	chr12:104970199-104970200	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538247689	chr12:104970225-104970226	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4964821	chr12:104970236-104970237	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568838810	chr12:104970248-104970249	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148881622	chr12:104970252-104970253	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1704889	chr12:104970485-104970486	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs143590383	chr12:104970513-104970514	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104950000-104978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:104958400-104972400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:104960600-104970600	Weak transcription	Right Atrium	heart
4	chr12:104961800-104972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:104962200-104969400	Weak transcription	Pancreas	Pancrea
6	chr12:104962200-104969800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:104962400-104971200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:104963400-104974800	Weak transcription	Gastric	stomach
9	chr12:104964200-104970600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:104964200-104974800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:104964200-104976000	Weak transcription	Primary T cells from cord blood	blood
12	chr12:104964400-104969200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:104964400-104972800	Weak transcription	Spleen	Spleen
14	chr12:104964600-104969800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:104964800-104970600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:104965200-104975400	Weak transcription	Placenta	Placenta
17	chr12:104965400-104970000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:104965400-104970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:104965400-104971600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:104965400-104971600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:104965400-104982200	Weak transcription	Left Ventricle	heart
22	chr12:104965600-104970000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:104965600-104970000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:104967400-104970000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:104968800-104969200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:104968800-104969200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:104968800-104969600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:104968800-104969600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:104968800-104969800	Enhancers	Thymus	Thymus
30	chr12:104968800-104970000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:104968800-104970400	Genic enhancers	Fetal Thymus	thymus
32	chr12:104968800-104970400	Enhancers	K562	blood
33	chr12:104968800-104970600	Enhancers	Primary B cells from cord blood	blood
34	chr12:104968800-104971000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:104968800-104971000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:104968800-104971200	Enhancers	Osteobl	bone
37	chr12:104968800-104971400	Enhancers	Primary B cells from peripheral blood	blood
38	chr12:104968800-104974200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:104969000-104969200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:104969000-104969200	Enhancers	NH-A	brain
43	chr12:104969000-104969400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:104969000-104969400	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:104969000-104969400	Enhancers	A549	lung
46	chr12:104969000-104969400	Genic enhancers	Dnd41	blood
47	chr12:104969000-104969800	Enhancers	GM12878-XiMat	blood
48	chr12:104969000-104970000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:104969000-104971000	Enhancers	Lung	lung
50	chr12:104969000-104971200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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