Variant report

Variant	nsv977584
Chromosome Location	chr14:36972742-36978499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533980096	chr14:36972746-36972747	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553218605	chr14:36972757-36972758	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147417862	chr14:36972760-36972761	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535237639	chr14:36972778-36972779	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557094330	chr14:36972991-36972992	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183103853	chr14:36973032-36973033	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187451792	chr14:36973098-36973099	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575630214	chr14:36973138-36973139	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139644972	chr14:36973139-36973140	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557606593	chr14:36973181-36973182	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191897764	chr14:36973189-36973190	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539873597	chr14:36973196-36973197	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558780737	chr14:36973201-36973202	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs377536596	chr14:36973203-36973204	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs574764417	chr14:36973210-36973211	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs540268822	chr14:36973214-36973215	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs79010323	chr14:36973229-36973230	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529629706	chr14:36973232-36973233	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs557878089	chr14:36973251-36973252	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs543203984	chr14:36973274-36973275	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs563076993	chr14:36973278-36973279	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531991975	chr14:36973319-36973320	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551846122	chr14:36973322-36973323	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565271863	chr14:36973342-36973343	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs371839227	chr14:36973353-36973354	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527665699	chr14:36973361-36973362	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547488384	chr14:36973364-36973365	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs1885122	chr14:36973375-36973376	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535362356	chr14:36973387-36973388	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548913413	chr14:36973390-36973391	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs568702369	chr14:36973396-36973397	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs537679054	chr14:36973412-36973413	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557811120	chr14:36973434-36973435	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540041130	chr14:36973542-36973543	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369335842	chr14:36973562-36973563	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs533748297	chr14:36973569-36973570	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs561892910	chr14:36973607-36973608	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs574337869	chr14:36973702-36973703	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs373635730	chr14:36973708-36973709	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs8006535	chr14:36973739-36973740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563217734	chr14:36973800-36973801	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs78272712	chr14:36973865-36973866	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112597372	chr14:36973905-36973906	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183251855	chr14:36973908-36973909	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151054161	chr14:36973954-36973955	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139704788	chr14:36974016-36974017	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560941381	chr14:36974067-36974068	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573868149	chr14:36974151-36974152	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34312184	chr14:36974166-36974167	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187784312	chr14:36974279-36974280	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36972200-36973000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
2	chr14:36972400-36972800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
3	chr14:36972400-36973000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
4	chr14:36972400-36975000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:36972600-36972800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
6	chr14:36972600-36973000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:36972600-36974200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr14:36972600-36974200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr14:36972800-36973000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr14:36972800-36973200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr14:36972800-36973200	Weak transcription	Lung	lung
12	chr14:36972800-36973600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:36972800-36974800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr14:36973000-36973200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
15	chr14:36973000-36973200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr14:36973000-36973200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr14:36973000-36973200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:36973000-36973800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
19	chr14:36973000-36974000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:36973000-36974400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr14:36973200-36973400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:36973200-36973400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:36973200-36973400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:36973200-36973400	Bivalent Enhancer	Brain Germinal Matrix	brain
25	chr14:36973200-36973400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
26	chr14:36973200-36973600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:36973200-36973600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr14:36973200-36973800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:36973200-36973800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr14:36973200-36973800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr14:36973200-36973800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:36973200-36973800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:36973200-36973800	ZNF genes & repeats	Lung	lung
34	chr14:36973200-36973800	Enhancers	Pancreas	Pancrea
35	chr14:36973200-36973800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
36	chr14:36973200-36973800	Flanking Active TSS	Right Atrium	heart
37	chr14:36973200-36973800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
38	chr14:36973200-36974000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr14:36973200-36974000	Enhancers	Spleen	Spleen
40	chr14:36973200-36974200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr14:36973200-36974800	Bivalent Enhancer	Liver	Liver
42	chr14:36973200-36975000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:36973200-36975000	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr14:36973400-36973600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:36973400-36973600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:36973400-36973600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:36973400-36973600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:36973400-36973600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:36973400-36973600	Bivalent Enhancer	Ovary	ovary
50	chr14:36973400-36973800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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