Variant report

Variant	nsv1252
Chromosome Location	chr14:41670038-41715636
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	chr14:41488666..41490358-chr14:41674438..41676053,2	K562	blood:

Extended variants
information (count: 613 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:613 , 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	rs183485592	chr14:41673026-41673027	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs528692099	chr14:41673031-41673032	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs547146192	chr14:41673110-41673111	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs115050914	chr14:41673128-41673129	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs187268069	chr14:41673141-41673142	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs550855354	chr14:41673170-41673171	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs17111545	chr14:41673195-41673196	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184994729	chr14:41674409-41674410	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs138230627	chr14:41674413-41674414	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs1782169	chr14:41674426-41674427	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561119227	chr14:41674434-41674435	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs187917721	chr14:41674435-41674436	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs192845360	chr14:41674460-41674461	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs149551606	chr14:41674481-41674482	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs568946118	chr14:41674508-41674509	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs536592140	chr14:41674513-41674514	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs185258452	chr14:41674517-41674518	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs207474704	chr14:41674551-41674552	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs566863794	chr14:41674554-41674555	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs201317544	chr14:41674566-41674567	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs112446490	chr14:41674580-41674581	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs188893132	chr14:41674581-41674582	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs148336632	chr14:41674589-41674590	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs556379827	chr14:41674619-41674620	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs141462716	chr14:41674686-41674687	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs369190971	chr14:41674691-41674692	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs542510998	chr14:41674721-41674722	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs530353006	chr14:41674739-41674740	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs560580836	chr14:41674776-41674777	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs192554948	chr14:41674813-41674814	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs540204486	chr14:41674838-41674839	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs564851052	chr14:41674875-41674876	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs1782170	chr14:41674903-41674904	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550689366	chr14:41674914-41674915	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs184888045	chr14:41674917-41674918	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs529805854	chr14:41674956-41674957	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs75668612	chr14:41674957-41674958	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs566616775	chr14:41674991-41674992	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs533953657	chr14:41674994-41674995	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs7156242	chr14:41675022-41675023	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147200865	chr14:41675042-41675043	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537996563	chr14:41675047-41675048	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552646405	chr14:41675085-41675086	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188478394	chr14:41675111-41675112	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180795988	chr14:41675124-41675125	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185936286	chr14:41675166-41675167	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572676088	chr14:41675189-41675190	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546507129	chr14:41675225-41675226	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369756627	chr14:41675226-41675227	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564917501	chr14:41675309-41675310	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41673000-41673200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:41674400-41674600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
3	chr14:41674400-41675000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:41674400-41675000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:41674400-41675200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr14:41674600-41674800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
7	chr14:41674800-41675000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr14:41674800-41675200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr14:41674800-41675400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr14:41674800-41675600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr14:41675000-41679600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:41675200-41675400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:41675200-41675400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr14:41675400-41675600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr14:41696200-41696800	Enhancers	Liver	Liver
16	chr14:41696400-41696800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:41696800-41699800	Weak transcription	Liver	Liver
18	chr14:41699800-41700400	Enhancers	Liver	Liver
19	chr14:41700400-41703800	Weak transcription	Liver	Liver
20	chr14:41703800-41705600	Enhancers	Liver	Liver
21	chr14:41715400-41716000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr14:41715400-41716000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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