Variant report

Variant	nsv564394
Chromosome Location	chr14:38362374-38364531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:38363021..38365119-chr14:38365586..38368317,2	MCF-7	breast:
2	chr14:38056746..38059083-chr14:38363861..38366801,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553031196	chr14:38362386-38362387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577842389	chr14:38362437-38362438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540816772	chr14:38362459-38362460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139861212	chr14:38362478-38362479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529549063	chr14:38362485-38362486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201764183	chr14:38362513-38362514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548727920	chr14:38362588-38362589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112770407	chr14:38362621-38362622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562437065	chr14:38362625-38362626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189984005	chr14:38362685-38362686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56356547	chr14:38362745-38362746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541785416	chr14:38362768-38362769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551532234	chr14:38362781-38362782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368251676	chr14:38362819-38362820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571362942	chr14:38362829-38362830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74676027	chr14:38362903-38362904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192121057	chr14:38362952-38362953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567452219	chr14:38362993-38362994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184723017	chr14:38362995-38362996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116595894	chr14:38363083-38363084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142956599	chr14:38363163-38363164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146176854	chr14:38363181-38363182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114658496	chr14:38363222-38363223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571998576	chr14:38363313-38363314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577703027	chr14:38363340-38363341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189292886	chr14:38363343-38363344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554317415	chr14:38363344-38363345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78663412	chr14:38363356-38363357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574270845	chr14:38363368-38363369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543342443	chr14:38363400-38363401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370465360	chr14:38363423-38363424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563156460	chr14:38363459-38363460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78093050	chr14:38363464-38363465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77408937	chr14:38363484-38363485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149962114	chr14:38363492-38363493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534607356	chr14:38363506-38363507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145066150	chr14:38363530-38363531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181955745	chr14:38363538-38363539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185955119	chr14:38363539-38363540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75381396	chr14:38363541-38363542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189077432	chr14:38363543-38363544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181023034	chr14:38363545-38363546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148665812	chr14:38363552-38363553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557303844	chr14:38363584-38363585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557687750	chr14:38363633-38363634	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72679031	chr14:38363703-38363704	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113559937	chr14:38363715-38363716	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147915060	chr14:38363777-38363778	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369266278	chr14:38363812-38363813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7149941	chr14:38363817-38363818	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:59)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38361400-38363400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:38361600-38362800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:38362200-38362400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:38362400-38362800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:38362400-38364400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:38362800-38364800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:38362800-38365000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:38362800-38365200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:38363200-38364200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:38363200-38364400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr14:38363400-38363600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:38363400-38363600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:38363400-38363800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:38363400-38363800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:38363400-38364200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr14:38363600-38363800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:38363600-38363800	Enhancers	Psoas Muscle	Psoas
18	chr14:38363600-38364400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:38363800-38364000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:38363800-38371000	Weak transcription	Psoas Muscle	Psoas
21	chr14:38364000-38364200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr14:38364200-38364400	Enhancers	Adipose Nuclei	Adipose
23	chr14:38364200-38364600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:38364400-38364600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:38364400-38365400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:38364400-38369200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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