Variant report

Variant	nsv528476
Chromosome Location	chr12:29884553-29895535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:29890291..29892442-chr12:29896713..29898874,2	MCF-7	breast:
2	chr12:29893612..29896534-chr12:29900997..29903982,2	K562	blood:
3	chr12:29882421..29885325-chr12:29889009..29890831,2	MCF-7	breast:
4	chr12:29882421..29885325-chr12:29889009..29890831,2	MCF-7	breast:
5	chr12:29891360..29894342-chr19:10222337..10224334,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244165	chromatin interactions

Extended variants
information (count: 427 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:427 , 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	rs2033794	chr12:29884553-29884554	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12303772	chr12:29884569-29884570	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574957926	chr12:29884570-29884571	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72512277	chr12:29884581-29884582	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs5797338	chr12:29884582-29884583	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs33957817	chr12:29884583-29884584	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571576831	chr12:29884644-29884645	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538608505	chr12:29884648-29884649	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377041912	chr12:29884726-29884727	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77426589	chr12:29884758-29884759	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565703598	chr12:29884783-29884784	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144638399	chr12:29884902-29884903	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554693532	chr12:29884932-29884933	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573846735	chr12:29884939-29884940	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138536029	chr12:29884989-29884990	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12317484	chr12:29885013-29885014	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140207893	chr12:29885053-29885054	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35436431	chr12:29885062-29885063	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545714135	chr12:29885111-29885112	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560274927	chr12:29885168-29885169	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190770089	chr12:29885170-29885171	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542752895	chr12:29885195-29885196	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546167888	chr12:29885200-29885201	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561436833	chr12:29885202-29885203	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145568669	chr12:29885273-29885274	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34179109	chr12:29885283-29885284	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79712856	chr12:29885324-29885325	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs58520450	chr12:29885350-29885351	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369131396	chr12:29885383-29885384	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201926998	chr12:29885393-29885394	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79893797	chr12:29885449-29885450	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138121832	chr12:29885463-29885464	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76416157	chr12:29885466-29885467	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554324654	chr12:29885473-29885474	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569426062	chr12:29885485-29885486	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35109341	chr12:29885492-29885493	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549242013	chr12:29885509-29885510	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183010509	chr12:29885534-29885535	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535776605	chr12:29885536-29885537	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187623396	chr12:29885577-29885578	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114373261	chr12:29885596-29885597	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193206155	chr12:29885597-29885598	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199771772	chr12:29885647-29885648	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77720604	chr12:29885689-29885690	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75172637	chr12:29885694-29885695	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561332598	chr12:29885751-29885752	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111268902	chr12:29885756-29885757	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113067619	chr12:29885771-29885772	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147264587	chr12:29885821-29885822	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs370779676	chr12:29885850-29885851	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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 myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29855800-29891200	Weak transcription	NHLF	lung
2	chr12:29863400-29895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:29868000-29885000	Weak transcription	HMEC	breast
4	chr12:29868600-29885600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:29875400-29891600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:29878200-29889000	Enhancers	Colon Smooth Muscle	Colon
7	chr12:29878400-29887400	Weak transcription	Aorta	Aorta
8	chr12:29879200-29887200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:29879400-29891600	Weak transcription	NHDF-Ad	bronchial
10	chr12:29879600-29885200	Weak transcription	Fetal Lung	lung
11	chr12:29879600-29892000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:29879600-29894000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:29879800-29885200	Weak transcription	Osteobl	bone
14	chr12:29879800-29886200	Weak transcription	Brain Angular Gyrus	brain
15	chr12:29879800-29886600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:29879800-29896800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:29880000-29885000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:29880000-29885200	Weak transcription	HUVEC	blood vessel
19	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
20	chr12:29880200-29884600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:29880200-29895800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:29880800-29885600	Enhancers	Psoas Muscle	Psoas
23	chr12:29881000-29895600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:29881400-29884600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:29881400-29885800	Weak transcription	Spleen	Spleen
26	chr12:29881400-29887200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:29881400-29890600	Weak transcription	Ovary	ovary
28	chr12:29881600-29890000	Weak transcription	Lung	lung
29	chr12:29881600-29915800	Weak transcription	Brain Substantia Nigra	brain
30	chr12:29881800-29885400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:29882200-29888600	Enhancers	Fetal Muscle Leg	muscle
32	chr12:29882400-29885800	Enhancers	Fetal Stomach	stomach
33	chr12:29882600-29885400	Weak transcription	Right Ventricle	heart
34	chr12:29882600-29886000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:29882600-29887200	Enhancers	Fetal Heart	heart
36	chr12:29882600-29888000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:29882600-29889800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:29882800-29885600	Weak transcription	Right Atrium	heart
39	chr12:29883000-29885600	Weak transcription	Left Ventricle	heart
40	chr12:29883000-29886000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:29883400-29884600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:29883400-29885000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:29883400-29885800	Enhancers	Adipose Nuclei	Adipose
44	chr12:29883400-29886000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:29883600-29885600	Weak transcription	Hela-S3	cervix
46	chr12:29883600-29888600	Genic enhancers	Muscle Satellite Cultured Cells	--
47	chr12:29883600-29888800	Enhancers	Fetal Brain Female	brain
48	chr12:29883800-29884800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:29883800-29885200	Weak transcription	NH-A	brain
50	chr12:29883800-29885400	Weak transcription	HSMM	muscle

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