Variant report

Variant	nsv1035521
Chromosome Location	chr12:33265578-33293907
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33275813..33277341-chr12:33279661..33282309,2	K562	blood:
2	chr12:33245520..33247527-chr12:33268044..33270867,2	MCF-7	breast:
3	chr12:33267275..33267984-chr12:33276076..33276722,2	MCF-7	breast:
4	chr12:33275813..33277341-chr12:33279661..33282309,2	K562	blood:
5	chr12:33267275..33267984-chr12:33276076..33276722,2	MCF-7	breast:
6	chr12:33276474..33280086-chr12:33280622..33283450,3	MCF-7	breast:
7	chr12:33282689..33284420-chr12:33286427..33288390,2	MCF-7	breast:
8	chr12:33276474..33280086-chr12:33280622..33283450,3	MCF-7	breast:
9	chr12:33282689..33284420-chr12:33286427..33288390,2	MCF-7	breast:
10	chr12:33287934..33289465-chr12:33290308..33292907,2	K562	blood:
11	chr12:33287934..33289465-chr12:33290308..33292907,2	K562	blood:

No data

Extended variants
information (count: 373 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12305595	chr12:33265578-33265579	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191999519	chr12:33265628-33265629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147866541	chr12:33265633-33265634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531078911	chr12:33265659-33265660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540269245	chr12:33265665-33265666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140500334	chr12:33265668-33265669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4931057	chr12:33265703-33265704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150422060	chr12:33265711-33265712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547496790	chr12:33265724-33265725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7976558	chr12:33265725-33265726	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111678305	chr12:33265767-33265768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138043125	chr12:33265769-33265770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544888655	chr12:33265803-33265804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528064263	chr12:33265845-33265846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547824662	chr12:33265846-33265847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568060991	chr12:33265906-33265907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563098967	chr12:33265914-33265915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181795259	chr12:33265920-33265921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186329726	chr12:33265926-33265927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57855974	chr12:33265957-33265958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553686996	chr12:33265959-33265960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7961841	chr12:33265980-33265981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373194476	chr12:33265988-33265989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557055014	chr12:33266049-33266050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377197261	chr12:33266057-33266058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575557491	chr12:33266094-33266095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75501017	chr12:33266181-33266182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189558945	chr12:33266185-33266186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532150368	chr12:33266198-33266199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545631231	chr12:33266208-33266209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11052456	chr12:33266222-33266223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs77083661	chr12:33266229-33266230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182220762	chr12:33266255-33266256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188063854	chr12:33266273-33266274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148804876	chr12:33266310-33266311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61273100	chr12:33266313-33266314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568009594	chr12:33266348-33266349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138784044	chr12:33266372-33266373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369304982	chr12:33266381-33266382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117390919	chr12:33266412-33266413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545052364	chr12:33266415-33266416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540028513	chr12:33266435-33266436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191152365	chr12:33266436-33266437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553496204	chr12:33266525-33266526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57025428	chr12:33266537-33266538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536113261	chr12:33266568-33266569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183415616	chr12:33266572-33266573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35249147	chr12:33266574-33266575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10772033	chr12:33266612-33266613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs537877601	chr12:33266633-33266634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
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	17899364	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Alcoholism	21790672	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33261600-33269200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:33264400-33265600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:33264600-33265600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:33264600-33265600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:33264600-33265600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:33264600-33265600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:33264800-33265800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr12:33265000-33265600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:33265200-33265600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:33265200-33265600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:33265400-33265600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:33265600-33268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:33265600-33268400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:33265600-33268600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:33265600-33268800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:33265600-33269000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:33265600-33269000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:33265600-33269000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:33265800-33268600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:33268000-33269800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:33268200-33268800	Enhancers	NHEK	skin
22	chr12:33268200-33269400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:33268200-33269800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:33268200-33270400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:33268400-33269800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr12:33268600-33268800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr12:33268600-33269200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:33268600-33269200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr12:33268600-33269600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:33268800-33269600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr12:33269000-33269600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:33269000-33269600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:33269000-33269800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr12:33269200-33269600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr12:33269200-33269800	Enhancers	HMEC	breast
36	chr12:33269400-33270400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:33270600-33270800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:33276800-33277200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:33277200-33278600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:33277800-33280000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:33278600-33279200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:33286600-33287000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:33292000-33293200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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