Variant report

Variant	nsv826319
Chromosome Location	chr12:33672059-33712501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33711689..33714048-chr12:33717879..33720013,2	MCF-7	breast:
2	chr12:33590753..33592625-chr12:33706633..33709299,2	K562	blood:
3	chr12:33694299..33696215-chr12:33697909..33700735,2	MCF-7	breast:
4	chr12:33697913..33700088-chr12:33701563..33703139,2	K562	blood:
5	chr12:33697913..33700088-chr12:33701563..33703139,2	K562	blood:
6	chr12:33680785..33683680-chr12:33685838..33687484,3	MCF-7	breast:
7	chr12:33704309..33707491-chr12:33710515..33713446,4	K562	blood:
8	chr12:33700293..33703250-chr12:33739121..33741427,2	K562	blood:
9	chr12:33694299..33696215-chr12:33697909..33700735,2	MCF-7	breast:
10	chr12:33669502..33671895-chr12:33672073..33673805,2	MCF-7	breast:
11	chr12:33688358..33691054-chr12:33691826..33694361,2	K562	blood:
12	chr12:33704309..33707491-chr12:33710515..33713446,4	K562	blood:
13	chr12:33688358..33691054-chr12:33691826..33694361,2	K562	blood:
14	chr12:33673352..33675554-chr12:33738881..33741351,2	MCF-7	breast:
15	chr12:33680785..33683680-chr12:33685838..33687484,3	MCF-7	breast:
16	chr12:33673191..33674096-chr7:136092701..136093461,2	MCF-7	breast:
17	chr12:33663952..33667378-chr12:33671771..33674594,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110975	chromatin interactions

Extended variants
information (count: 871 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:871 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138495126	chr12:33672600-33672601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73315776	chr12:33672601-33672602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565167749	chr12:33672616-33672617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78727702	chr12:33672652-33672653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17575491	chr12:33672663-33672664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567228750	chr12:33672708-33672709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535978083	chr12:33672720-33672721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549822387	chr12:33672789-33672790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146075599	chr12:33672854-33672855	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77074443	chr12:33672896-33672897	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558864508	chr12:33672942-33672943	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7486242	chr12:33672964-33672965	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs534941600	chr12:33672967-33672968	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs554553957	chr12:33673018-33673019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140003717	chr12:33673038-33673039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546946507	chr12:33673173-33673174	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570994451	chr12:33673174-33673175	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs139538890	chr12:33673175-33673176	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543580424	chr12:33673195-33673196	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149381521	chr12:33673208-33673209	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs147809859	chr12:33673253-33673254	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576196072	chr12:33673268-33673269	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs545182916	chr12:33673287-33673288	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs192267177	chr12:33673317-33673318	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527591379	chr12:33673347-33673348	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs369241656	chr12:33673349-33673350	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150928182	chr12:33673383-33673384	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs183803885	chr12:33673408-33673409	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116549338	chr12:33673412-33673413	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189108538	chr12:33673420-33673421	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551238791	chr12:33673505-33673506	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371241954	chr12:33673506-33673507	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192202516	chr12:33673523-33673524	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184478362	chr12:33673572-33673573	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569472319	chr12:33673598-33673599	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377525011	chr12:33673619-33673620	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs552357608	chr12:33673621-33673622	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs565895183	chr12:33673625-33673626	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535002425	chr12:33673626-33673627	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs373817983	chr12:33673629-33673630	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs554819927	chr12:33673630-33673631	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs186868684	chr12:33673643-33673644	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs144717635	chr12:33673663-33673664	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs557219057	chr12:33673675-33673676	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs115854888	chr12:33673695-33673696	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs546276554	chr12:33673741-33673742	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs558798519	chr12:33673769-33673770	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs572240012	chr12:33673825-33673826	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191652301	chr12:33673855-33673856	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561154437	chr12:33673859-33673860	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33672600-33672800	Enhancers	K562	blood
2	chr12:33672800-33673000	Flanking Active TSS	K562	blood
3	chr12:33673000-33673200	Active TSS	K562	blood
4	chr12:33673200-33673400	Flanking Active TSS	K562	blood
5	chr12:33673200-33673800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:33673400-33673600	Enhancers	HepG2	liver
7	chr12:33673400-33674200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:33673400-33674200	Active TSS	K562	blood
9	chr12:33673600-33673800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:33673600-33673800	Flanking Active TSS	HepG2	liver
11	chr12:33673600-33674000	Active TSS	Esophagus	oesophagus
12	chr12:33673600-33674200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr12:33673600-33674200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:33673600-33674200	Active TSS	Liver	Liver
15	chr12:33673600-33674200	Active TSS	Duodenum Mucosa	Duodenum
16	chr12:33673800-33674000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:33673800-33674200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr12:33673800-33674200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:33673800-33674200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:33673800-33674200	Active TSS	Colonic Mucosa	Colon
21	chr12:33673800-33674200	Active TSS	Pancreas	Pancrea
22	chr12:33673800-33674200	Active TSS	HepG2	liver
23	chr12:33673800-33674600	Active TSS	Gastric	stomach
24	chr12:33674000-33674200	Flanking Active TSS	Esophagus	oesophagus
25	chr12:33674000-33674200	Enhancers	Spleen	Spleen
26	chr12:33674200-33674600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:33674200-33674600	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:33674200-33677200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:33680600-33681200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:33681600-33686600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:33682000-33682200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:33682200-33682400	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr12:33682400-33682800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr12:33682600-33683200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr12:33682800-33684200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:33685800-33686000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr12:33699000-33699200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:33699200-33704000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:33704000-33704800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:33704800-33714600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:33709800-33710000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr12:33710000-33710600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr12:33710000-33713600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:33711200-33711600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:33711600-33713200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:33712200-33712400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:33712400-33712600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr12:33712400-33712600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr12:33712400-33713600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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