Variant report

Variant	esv2754065
Chromosome Location	chr12:30499833-30560733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30507863..30511356-chr12:30514045..30517303,4	K562	blood:
2	chr12:30507863..30511356-chr12:30514045..30517303,4	K562	blood:
3	chr12:30552137..30554931-chr2:19547120..19549825,2	K562	blood:

Variant related genes	Relation type
ENSG00000266738	chromatin interactions

Extended variants
information (count: 1403 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1403 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7139291	chr12:30499837-30499838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551490518	chr12:30499853-30499854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560076879	chr12:30499870-30499871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7139306	chr12:30499871-30499872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537650891	chr12:30499887-30499888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6487902	chr12:30499918-30499919	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577660691	chr12:30499934-30499935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544739476	chr12:30499943-30499944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34759829	chr12:30499996-30499997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78371537	chr12:30499998-30499999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147182609	chr12:30500031-30500032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540481189	chr12:30500042-30500043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74371614	chr12:30500057-30500058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79356781	chr12:30500062-30500063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544477894	chr12:30500082-30500083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186857167	chr12:30500099-30500100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536002390	chr12:30500113-30500114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375681154	chr12:30500114-30500115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139316047	chr12:30500146-30500147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111379563	chr12:30500152-30500153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571868750	chr12:30500175-30500176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7962895	chr12:30500177-30500178	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557795672	chr12:30500194-30500195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148714083	chr12:30500195-30500196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143947752	chr12:30500218-30500219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146878579	chr12:30500224-30500225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7963253	chr12:30500264-30500265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374896264	chr12:30500280-30500281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189683558	chr12:30500323-30500324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538320686	chr12:30500348-30500349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183377911	chr12:30500378-30500379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116344229	chr12:30500425-30500426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188075277	chr12:30500431-30500432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554597416	chr12:30500434-30500435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193244035	chr12:30500464-30500465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7963519	chr12:30500468-30500469	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562905246	chr12:30500518-30500519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185294596	chr12:30500558-30500559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188564634	chr12:30500560-30500561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75723788	chr12:30500562-30500563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs354154	chr12:30500646-30500647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139736445	chr12:30500667-30500668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72392723	chr12:30500746-30500747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60316036	chr12:30500748-30500749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77043430	chr12:30500749-30500750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs80064223	chr12:30500750-30500751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373019269	chr12:30500751-30500752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113039691	chr12:30500752-30500753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567677513	chr12:30500777-30500778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545216146	chr12:30500810-30500811	Enhancers	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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30498200-30501400	Enhancers	Fetal Heart	heart
2	chr12:30501400-30510800	Weak transcription	Fetal Heart	heart
3	chr12:30503800-30505200	Enhancers	Liver	Liver
4	chr12:30508200-30508600	Enhancers	Placenta	Placenta
5	chr12:30509000-30509800	Enhancers	Fetal Lung	lung
6	chr12:30509800-30510200	Weak transcription	Fetal Lung	lung
7	chr12:30510200-30511800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:30510200-30512400	Enhancers	Fetal Lung	lung
9	chr12:30510600-30512200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:30510800-30511200	Enhancers	Adipose Nuclei	Adipose
11	chr12:30510800-30511200	Enhancers	Fetal Stomach	stomach
12	chr12:30510800-30511400	Enhancers	Left Ventricle	heart
13	chr12:30510800-30511400	Enhancers	Lung	lung
14	chr12:30510800-30512000	Enhancers	Right Atrium	heart
15	chr12:30510800-30512400	Enhancers	Fetal Heart	heart
16	chr12:30511200-30512000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:30511200-30512000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:30514000-30514400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr12:30517400-30518800	Enhancers	Fetal Lung	lung
20	chr12:30518400-30518800	Enhancers	Fetal Stomach	stomach
21	chr12:30520000-30520200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:30537600-30539200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:30537800-30538600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:30537800-30538600	Enhancers	Brain Germinal Matrix	brain
25	chr12:30538000-30539000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:30538400-30538600	Enhancers	Fetal Brain Female	brain
27	chr12:30538400-30539400	Enhancers	Fetal Brain Male	brain
28	chr12:30539200-30539400	Enhancers	Liver	Liver
29	chr12:30539400-30541600	Weak transcription	Liver	Liver
30	chr12:30541600-30541800	Enhancers	Liver	Liver
31	chr12:30541600-30542400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:30541800-30542600	Weak transcription	Liver	Liver
33	chr12:30542600-30543400	Enhancers	Liver	Liver
34	chr12:30543400-30546200	Weak transcription	Liver	Liver
35	chr12:30546200-30546600	Enhancers	Liver	Liver
36	chr12:30546200-30550800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:30546600-30555000	Weak transcription	Liver	Liver
38	chr12:30547800-30549400	Enhancers	K562	blood
39	chr12:30548400-30551200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:30549400-30551200	Weak transcription	K562	blood
41	chr12:30551200-30551400	Enhancers	K562	blood
42	chr12:30551400-30551800	Weak transcription	K562	blood
43	chr12:30551800-30552800	Enhancers	K562	blood
44	chr12:30551800-30555400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:30552800-30553400	Flanking Active TSS	K562	blood
46	chr12:30553400-30553800	Enhancers	K562	blood
47	chr12:30555000-30555400	Enhancers	Liver	Liver

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