Variant report

Variant	nsv1054130
Chromosome Location	chr14:46327520-46360086
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	chr14:46346207..46348483-chr14:46349392..46352093,2	K562	blood:
2	chr14:46346207..46348483-chr14:46349392..46352093,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-9	chr14:46359392-46359577	NONHSAT036675

Extended variants
information (count: 468 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538905163	chr14:46333600-46333601	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs557517633	chr14:46333664-46333665	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs541787678	chr14:46333669-46333670	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576038109	chr14:46333674-46333675	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114240632	chr14:46333779-46333780	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs375387261	chr14:46333838-46333839	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186625950	chr14:46333954-46333955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73239890	chr14:46333977-46333978	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143546529	chr14:46333989-46333990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs78804638	chr14:46334020-46334021	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530278224	chr14:46334045-46334046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1958149	chr14:46334096-46334097	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577250835	chr14:46334103-46334104	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139075159	chr14:46334105-46334106	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs73239891	chr14:46334118-46334119	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138335407	chr14:46334173-46334174	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs66474367	chr14:46334199-46334200	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77640657	chr14:46334200-46334201	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141870221	chr14:46334225-46334226	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs527343991	chr14:46334228-46334229	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs111315717	chr14:46334239-46334240	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547213047	chr14:46334254-46334255	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570490067	chr14:46334259-46334260	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs10147303	chr14:46334342-46334343	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192693841	chr14:46334343-46334344	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs56870150	chr14:46334393-46334394	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs60645117	chr14:46334394-46334395	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs555346873	chr14:46334395-46334396	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs79235177	chr14:46334400-46334401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs33951104	chr14:46334401-46334402	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183164487	chr14:46334419-46334420	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs558914168	chr14:46334422-46334423	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs187488168	chr14:46334437-46334438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs533970601	chr14:46334448-46334449	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558888446	chr14:46334459-46334460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs380387	chr14:46334492-46334493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs150615359	chr14:46334536-46334537	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs72678970	chr14:46334601-46334602	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74977794	chr14:46334612-46334613	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs574246802	chr14:46334728-46334729	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs139718925	chr14:46334729-46334730	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs560056687	chr14:46334739-46334740	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527569944	chr14:46334755-46334756	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs192933105	chr14:46334759-46334760	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564083830	chr14:46334796-46334797	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs380680	chr14:46334811-46334812	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149347289	chr14:46334842-46334843	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568155787	chr14:46334889-46334890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs79550911	chr14:46334903-46334904	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs147227363	chr14:46335000-46335001	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46333600-46334600	Active TSS	GM12878-XiMat	blood
2	chr14:46334600-46334800	Flanking Active TSS	GM12878-XiMat	blood
3	chr14:46334800-46335000	Active TSS	GM12878-XiMat	blood
4	chr14:46335000-46335600	Enhancers	GM12878-XiMat	blood
5	chr14:46335600-46335800	Flanking Active TSS	GM12878-XiMat	blood
6	chr14:46335600-46336200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:46335800-46336000	Enhancers	GM12878-XiMat	blood
8	chr14:46336000-46336200	Flanking Active TSS	GM12878-XiMat	blood
9	chr14:46336200-46336400	Active TSS	GM12878-XiMat	blood
10	chr14:46336200-46336800	Enhancers	Fetal Heart	heart
11	chr14:46336200-46338600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:46336400-46336600	Flanking Active TSS	GM12878-XiMat	blood
13	chr14:46336600-46337000	Active TSS	GM12878-XiMat	blood
14	chr14:46337000-46337600	Flanking Active TSS	GM12878-XiMat	blood
15	chr14:46337600-46337800	Enhancers	GM12878-XiMat	blood
16	chr14:46337800-46338800	Flanking Active TSS	GM12878-XiMat	blood
17	chr14:46338800-46339000	Enhancers	GM12878-XiMat	blood
18	chr14:46339000-46339200	Weak transcription	GM12878-XiMat	blood
19	chr14:46339200-46339800	ZNF genes & repeats	GM12878-XiMat	blood
20	chr14:46357600-46357800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:46357600-46358200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:46357600-46358200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:46357600-46358400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:46357600-46358600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr14:46357600-46358600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr14:46357800-46358600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr14:46357800-46358600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr14:46358000-46358200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr14:46358000-46358200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:46358000-46358600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr14:46358000-46360800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:46358200-46358400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr14:46358200-46358400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr14:46358200-46358400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:46358400-46358600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:46358400-46358600	Weak transcription	Pancreas	Pancrea
37	chr14:46358400-46360800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:46358400-46360800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:46358400-46361000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:46358600-46359000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr14:46358600-46359000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr14:46358600-46360200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:46358600-46360400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:46358600-46360400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr14:46358600-46360800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:46359000-46360200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:46359000-46360600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:46359200-46359600	Enhancers	Fetal Kidney	kidney
49	chr14:46359600-46360000	Weak transcription	Fetal Kidney	kidney
50	chr14:46360000-46360600	Enhancers	Fetal Kidney	kidney

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