Variant report

Variant	nsv558296
Chromosome Location	chr12:33796754-33850874
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33809313..33810966-chr12:33832220..33835115,2	K562	blood:
2	chr12:33796695..33799615-chr12:33802612..33805057,2	K562	blood:
3	chr12:33828756..33830899-chr12:33837528..33839909,2	MCF-7	breast:
4	chr12:33831200..33833987-chr12:33837460..33839264,2	K562	blood:
5	chr12:33828843..33831342-chr12:33831748..33833892,2	MCF-7	breast:
6	chr12:33831200..33833987-chr12:33837460..33839264,2	K562	blood:
7	chr12:33795537..33797751-chr12:33801352..33803205,2	MCF-7	breast:
8	chr12:33830515..33832081-chr12:33832328..33834300,2	K562	blood:
9	chr12:33758791..33761325-chr12:33805781..33808679,2	K562	blood:
10	chr12:33795537..33797751-chr12:33801352..33803205,2	MCF-7	breast:
11	chr12:33801659..33804071-chr3:9833585..9835951,2	MCF-7	breast:
12	chr12:33817225..33819690-chr12:33823230..33824769,2	MCF-7	breast:
13	chr12:33785580..33788231-chr12:33795540..33797279,2	MCF-7	breast:
14	chr12:33807598..33810256-chr12:33811118..33813511,2	K562	blood:
15	chr12:33829191..33832015-chr12:33832800..33835417,2	K562	blood:
16	chr12:33828843..33831342-chr12:33831748..33833892,2	MCF-7	breast:
17	chr12:33829191..33832015-chr12:33832800..33835417,2	K562	blood:
18	chr12:33825675..33828123-chr8:42750828..42752625,2	MCF-7	breast:
19	chr12:33815236..33817568-chr12:33820316..33823181,2	K562	blood:
20	chr12:33799617..33801183-chr8:42749699..42752602,2	MCF-7	breast:
21	chr12:33817225..33819690-chr12:33823230..33824769,2	MCF-7	breast:
22	chr12:33796695..33799615-chr12:33802612..33805057,2	K562	blood:
23	chr12:33807598..33810256-chr12:33811118..33813511,2	K562	blood:
24	chr12:33795771..33798343-chr12:33800787..33802349,2	K562	blood:
25	chr12:33830515..33832081-chr12:33832328..33834300,2	K562	blood:
26	chr12:33828756..33830899-chr12:33837528..33839909,2	MCF-7	breast:
27	chr12:33815236..33817568-chr12:33820316..33823181,2	K562	blood:
28	chr12:33809313..33810966-chr12:33832220..33835115,2	K562	blood:
29	chr12:33795771..33798343-chr12:33800787..33802349,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171148	chromatin interactions
ENSG00000250151	chromatin interactions
ENSG00000241553	chromatin interactions
ENSG00000168172	chromatin interactions
ENSG00000120925	chromatin interactions
ENSG00000266044	chromatin interactions

Extended variants
information (count: 1231 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1231 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16921187	chr12:33796754-33796755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183924382	chr12:33796764-33796765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535307970	chr12:33796823-33796824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140848582	chr12:33796834-33796835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150138045	chr12:33796853-33796854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537988341	chr12:33796869-33796870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187309050	chr12:33796890-33796891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573811270	chr12:33796909-33796910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12423869	chr12:33796917-33796918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540881782	chr12:33796966-33796967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560643452	chr12:33796970-33796971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201612702	chr12:33796971-33796972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190856873	chr12:33796996-33796997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138784415	chr12:33797004-33797005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563124291	chr12:33797049-33797050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73303412	chr12:33797087-33797088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73303414	chr12:33797147-33797148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182620734	chr12:33797269-33797270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564892706	chr12:33797277-33797278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527704142	chr12:33797343-33797344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546842386	chr12:33797361-33797362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566640959	chr12:33797376-33797377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535771260	chr12:33797409-33797410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs137866462	chr12:33797410-33797411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1948152	chr12:33797428-33797429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs149490365	chr12:33797436-33797437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557889962	chr12:33797479-33797480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1488385	chr12:33797523-33797524	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201844735	chr12:33797525-33797526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533569059	chr12:33797598-33797599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553763809	chr12:33797635-33797636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113532221	chr12:33797641-33797642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372182587	chr12:33797652-33797653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372921753	chr12:33797721-33797722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543350711	chr12:33797734-33797735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113347658	chr12:33797739-33797740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576235722	chr12:33797877-33797878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116699861	chr12:33797882-33797883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565057008	chr12:33797896-33797897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148217011	chr12:33797906-33797907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541046395	chr12:33797913-33797914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141970246	chr12:33797944-33797945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76884455	chr12:33798001-33798002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542942234	chr12:33798082-33798083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs16921189	chr12:33798101-33798102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs186807756	chr12:33798107-33798108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531558415	chr12:33798118-33798119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16921193	chr12:33798136-33798137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12829254	chr12:33798144-33798145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571348051	chr12:33798148-33798149	Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33794400-33801200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:33795400-33797400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:33795800-33797000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:33796000-33797400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:33796000-33801400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:33796200-33797400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:33796600-33797200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:33797200-33797400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:33797200-33797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:33797400-33797600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:33797400-33797600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:33797400-33801600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:33801200-33802200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr12:33801400-33802200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr12:33801600-33801800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr12:33801600-33805200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr12:33801800-33802600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:33802200-33802400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:33802200-33803600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:33802400-33802600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr12:33802400-33803000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:33802600-33802800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:33802600-33803000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:33802600-33803000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:33802800-33803000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr12:33802800-33803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:33803000-33803600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:33803600-33805400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr12:33803800-33804000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr12:33803800-33805400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr12:33804000-33805400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:33804600-33805200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chr12:33805400-33810400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:33807200-33807600	Enhancers	K562	blood
35	chr12:33810000-33811000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:33810200-33810800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:33810400-33811000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:33811000-33814000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:33811000-33815600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:33812800-33813000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:33812800-33813000	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:33812800-33813000	Active TSS	Fetal Muscle Trunk	muscle
43	chr12:33812800-33813000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
44	chr12:33813000-33816600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:33814000-33814400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:33814000-33814600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:33814000-33814600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr12:33814000-33814800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:33814000-33814800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr12:33814200-33814400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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