Variant report

Variant	esv3429738
Chromosome Location	chr12:105638759-105642036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105605767..105607700-chr12:105638996..105640802,2	MCF-7	breast:
2	chr12:105627501..105631320-chr12:105637092..105641109,6	MCF-7	breast:
3	chr12:105624829..105626862-chr12:105636321..105638776,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235162	chromatin interactions
ENSG00000136044	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555384740	chr12:105638780-105638781	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182485489	chr12:105638793-105638794	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs558714972	chr12:105638802-105638803	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576398734	chr12:105638857-105638858	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542492361	chr12:105638898-105638899	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562274132	chr12:105638908-105638909	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528010742	chr12:105638913-105638914	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576716152	chr12:105638926-105638927	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564679084	chr12:105638957-105638958	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs368506027	chr12:105639003-105639004	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs7978648	chr12:105639025-105639026	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549951509	chr12:105639036-105639037	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143259002	chr12:105639037-105639038	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575362764	chr12:105639075-105639076	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs188102822	chr12:105639106-105639107	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs73399708	chr12:105639133-105639134	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548983547	chr12:105639159-105639160	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574252993	chr12:105639190-105639191	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565800056	chr12:105639221-105639222	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534924419	chr12:105639260-105639261	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557480236	chr12:105639264-105639265	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs10778371	chr12:105639324-105639325	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539537070	chr12:105639340-105639341	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs192676008	chr12:105639371-105639372	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs576361672	chr12:105639410-105639411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541830295	chr12:105639411-105639412	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555749163	chr12:105639435-105639436	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182638609	chr12:105639460-105639461	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs151247518	chr12:105639472-105639473	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs541749904	chr12:105639479-105639480	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs78513583	chr12:105639484-105639485	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs188952229	chr12:105639548-105639549	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs533609947	chr12:105639561-105639562	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs192531678	chr12:105639579-105639580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560167765	chr12:105639638-105639639	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs111433235	chr12:105639649-105639650	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs528997624	chr12:105639650-105639651	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs567541921	chr12:105639706-105639707	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs548658229	chr12:105639709-105639710	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs565670834	chr12:105639739-105639740	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs111373216	chr12:105639740-105639741	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551303357	chr12:105639743-105639744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs571092562	chr12:105639745-105639746	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs145672716	chr12:105639758-105639759	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs536873440	chr12:105639760-105639761	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs556760164	chr12:105639761-105639762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs570020023	chr12:105639763-105639764	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs112321172	chr12:105639777-105639778	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs555429329	chr12:105639796-105639797	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs113117751	chr12:105639797-105639798	Weak transcription	Chromatin interactive region	2 gene(s)	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
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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105630800-105639000	Weak transcription	Pancreas	Pancrea
2	chr12:105630800-105639000	Weak transcription	NHLF	lung
3	chr12:105632400-105638800	Weak transcription	NHDF-Ad	bronchial
4	chr12:105633800-105638800	Weak transcription	Osteobl	bone
5	chr12:105633800-105639000	Weak transcription	Gastric	stomach
6	chr12:105633800-105639200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:105637200-105639000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:105638800-105639400	Enhancers	Osteobl	bone
9	chr12:105638800-105639600	Enhancers	NHDF-Ad	bronchial
10	chr12:105639000-105639400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:105639000-105639400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:105639000-105639400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:105639000-105639400	Enhancers	Gastric	stomach
14	chr12:105639000-105639400	Enhancers	Pancreas	Pancrea
15	chr12:105639000-105639400	Enhancers	NHLF	lung
16	chr12:105639200-105639400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
17	chr12:105639200-105639600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:105639400-105639800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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