Variant report

Variant	nsv1046565
Chromosome Location	chr12:33252166-33294648
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	chr12:33282689..33284420-chr12:33286427..33288390,2	MCF-7	breast:
3	chr12:33267275..33267984-chr12:33276076..33276722,2	MCF-7	breast:
4	chr12:33282689..33284420-chr12:33286427..33288390,2	MCF-7	breast:
5	chr12:33267275..33267984-chr12:33276076..33276722,2	MCF-7	breast:
6	chr12:33276474..33280086-chr12:33280622..33283450,3	MCF-7	breast:
7	chr12:33287934..33289465-chr12:33290308..33292907,2	K562	blood:
8	chr12:33275813..33277341-chr12:33279661..33282309,2	K562	blood:
9	chr12:33245520..33247527-chr12:33268044..33270867,2	MCF-7	breast:
10	chr12:33276474..33280086-chr12:33280622..33283450,3	MCF-7	breast:
11	chr12:33287934..33289465-chr12:33290308..33292907,2	K562	blood:

No data

Extended variants
information (count: 618 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546138582	chr12:33260621-33260622	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs560011271	chr12:33260622-33260623	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs528447311	chr12:33260623-33260624	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs150818590	chr12:33260627-33260628	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs545593289	chr12:33260629-33260630	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs112295005	chr12:33260644-33260645	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs531073306	chr12:33260647-33260648	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551099217	chr12:33260648-33260649	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs7313325	chr12:33260663-33260664	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538845200	chr12:33260681-33260682	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs558545572	chr12:33260682-33260683	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528204862	chr12:33260698-33260699	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs532776647	chr12:33260704-33260705	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs147194594	chr12:33260718-33260719	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs368419816	chr12:33260756-33260757	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs190411805	chr12:33260758-33260759	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs554181948	chr12:33260794-33260795	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs7297188	chr12:33260795-33260796	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536700010	chr12:33260819-33260820	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150690724	chr12:33260846-33260847	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs577331370	chr12:33260857-33260858	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs546399845	chr12:33260874-33260875	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs182598771	chr12:33260877-33260878	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs144644972	chr12:33260897-33260898	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs542241927	chr12:33260912-33260913	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs562017239	chr12:33260935-33260936	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs148476698	chr12:33260942-33260943	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs372810332	chr12:33260943-33260944	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551062475	chr12:33260947-33260948	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs12823573	chr12:33260964-33260965	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs36119965	chr12:33260971-33260972	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183757266	chr12:33261026-33261027	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs7139127	chr12:33261044-33261045	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs61928820	chr12:33261066-33261067	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs7308404	chr12:33261080-33261081	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139871493	chr12:33261081-33261082	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs143222674	chr12:33261096-33261097	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs12815360	chr12:33261097-33261098	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576898654	chr12:33261099-33261100	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539629023	chr12:33261130-33261131	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs116199417	chr12:33261224-33261225	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141331630	chr12:33261233-33261234	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs542501633	chr12:33261248-33261249	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs188411898	chr12:33261253-33261254	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575683764	chr12:33261255-33261256	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544623811	chr12:33261263-33261264	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs181178572	chr12:33261272-33261273	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs10844466	chr12:33261273-33261274	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552081219	chr12:33261293-33261294	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs373226999	chr12:33261299-33261300	Active TSS ZNF genes & repeats	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33260600-33261400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:33260600-33261400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr12:33260600-33261400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:33260600-33261400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:33260800-33261400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:33260800-33261400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr12:33260800-33261600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr12:33260800-33261600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
9	chr12:33261000-33261400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr12:33261000-33261800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr12:33261200-33261800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr12:33261400-33264400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:33261400-33264600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:33261400-33265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:33261400-33265000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:33261400-33265200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:33261600-33264600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:33261600-33269200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:33261800-33264600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:33262000-33264600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:33264000-33264800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:33264400-33265600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:33264600-33265200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr12:33264600-33265600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:33264600-33265600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:33264600-33265600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:33264600-33265600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:33264800-33265200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr12:33264800-33265800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr12:33265000-33265200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:33265000-33265600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:33265200-33265400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:33265200-33265400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:33265200-33265600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:33265200-33265600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:33265400-33265600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:33265600-33268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:33265600-33268400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:33265600-33268600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:33265600-33268800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:33265600-33269000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:33265600-33269000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:33265600-33269000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:33265800-33268600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:33268000-33269800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:33268200-33268800	Enhancers	NHEK	skin
47	chr12:33268200-33269400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:33268200-33269800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:33268200-33270400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:33268400-33269800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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