Variant report

Variant	nsv564421
Chromosome Location	chr14:40467749-40572241
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:40524963..40526539-chr14:40536036..40538411,2	MCF-7	breast:
2	chr14:40501516..40503145-chr14:40505667..40507473,2	MCF-7	breast:
3	chr14:40524963..40526539-chr14:40536036..40538411,2	MCF-7	breast:
4	chr14:40496039..40499019-chr14:40499728..40502198,2	MCF-7	breast:
5	chr14:40570496..40572299-chr14:40575193..40577238,2	MCF-7	breast:
6	chr14:40534564..40535391-chr2:55398502..55399026,2	MCF-7	breast:
7	chr14:40501516..40503145-chr14:40505667..40507473,2	MCF-7	breast:
8	chr14:40496039..40499019-chr14:40499728..40502198,2	MCF-7	breast:

No data

Extended variants
information (count: 1629 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1629 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs380886	chr14:40467749-40467750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534270335	chr14:40467756-40467757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73282955	chr14:40467771-40467772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543631319	chr14:40467781-40467782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141167581	chr14:40467808-40467809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73282957	chr14:40467815-40467816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145025962	chr14:40467822-40467823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537252986	chr14:40467824-40467825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557138921	chr14:40467825-40467826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79970449	chr14:40467846-40467847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532200705	chr14:40467867-40467868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368332794	chr14:40467918-40467919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545847672	chr14:40467973-40467974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540792909	chr14:40467992-40467993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532903689	chr14:40468003-40468004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536832587	chr14:40468065-40468066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114807095	chr14:40468080-40468081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148964467	chr14:40468099-40468100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555871260	chr14:40468174-40468175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542134146	chr14:40468175-40468176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76582971	chr14:40468197-40468198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193070222	chr14:40468202-40468203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574099914	chr14:40468250-40468251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185747357	chr14:40468272-40468273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72683186	chr14:40468273-40468274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190612232	chr14:40468280-40468281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143120197	chr14:40468296-40468297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148239824	chr14:40468302-40468303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566122735	chr14:40468307-40468308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200038803	chr14:40468311-40468312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191475346	chr14:40468313-40468314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141268579	chr14:40468379-40468380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548429613	chr14:40468438-40468439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114475269	chr14:40468442-40468443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544917786	chr14:40468446-40468447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183612839	chr14:40468477-40468478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188764112	chr14:40468600-40468601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80085503	chr14:40468656-40468657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181143895	chr14:40468786-40468787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551659095	chr14:40468811-40468812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150787702	chr14:40468817-40468818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542246236	chr14:40468832-40468833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115145860	chr14:40468838-40468839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138207864	chr14:40468910-40468911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544048690	chr14:40469039-40469040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564291443	chr14:40469056-40469057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533021800	chr14:40469085-40469086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548197964	chr14:40469113-40469114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143406315	chr14:40469160-40469161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147148746	chr14:40469193-40469194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD
Intracranial tumor	22048656	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40464800-40467800	Weak transcription	Pancreas	Pancrea
2	chr14:40466800-40470600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:40470600-40470800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:40470800-40471200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:40471200-40471800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:40471800-40478400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:40473400-40474600	Enhancers	Fetal Kidney	kidney
8	chr14:40478400-40479600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:40479600-40480800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:40480800-40481600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:40481600-40482800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:40488200-40489600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:40488400-40489600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:40489400-40489600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:40489600-40489800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:40489600-40495200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:40489800-40490600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:40490600-40491400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:40494000-40494200	Enhancers	Fetal Intestine Small	intestine
20	chr14:40494000-40495400	Enhancers	Fetal Intestine Large	intestine
21	chr14:40494800-40495000	Enhancers	Fetal Intestine Small	intestine
22	chr14:40495200-40496000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:40495400-40496600	Weak transcription	Fetal Intestine Large	intestine
24	chr14:40498200-40498600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:40498200-40498600	Enhancers	Colon Smooth Muscle	Colon
26	chr14:40499800-40501200	Weak transcription	Fetal Intestine Large	intestine
27	chr14:40501200-40504800	Enhancers	Fetal Intestine Large	intestine
28	chr14:40501400-40501600	Weak transcription	Fetal Intestine Small	intestine
29	chr14:40501600-40501800	Enhancers	Fetal Intestine Small	intestine
30	chr14:40501800-40502400	Weak transcription	Fetal Intestine Small	intestine
31	chr14:40502400-40502600	Enhancers	Fetal Intestine Small	intestine
32	chr14:40502600-40503600	Weak transcription	Fetal Intestine Small	intestine
33	chr14:40503600-40504200	Enhancers	Fetal Intestine Small	intestine
34	chr14:40511000-40511200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:40520600-40520800	Enhancers	Fetal Brain Male	brain
36	chr14:40520800-40522000	Weak transcription	Fetal Brain Male	brain
37	chr14:40522000-40523400	Enhancers	Fetal Brain Male	brain
38	chr14:40522600-40523000	Enhancers	Fetal Stomach	stomach
39	chr14:40522600-40523200	Enhancers	Fetal Muscle Leg	muscle
40	chr14:40522600-40523400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr14:40522600-40523400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr14:40522800-40523200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr14:40522800-40523400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr14:40522800-40523600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr14:40522800-40523600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr14:40522800-40523800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr14:40523000-40523400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr14:40523200-40524200	Weak transcription	Fetal Muscle Leg	muscle
49	chr14:40524400-40524600	Enhancers	Fetal Muscle Leg	muscle
50	chr14:40527400-40527600	Enhancers	Colon Smooth Muscle	Colon

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