Variant report

Variant	nsv1048361
Chromosome Location	chr14:46867315-46904345
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	chr14:46878574..46881068-chr14:46881642..46884417,2	K562	blood:
2	chr14:46878574..46881068-chr14:46881642..46884417,2	K562	blood:

Extended variants
information (count: 782 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:782 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569486720	chr14:46867318-46867319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536856963	chr14:46867323-46867324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534858579	chr14:46867325-46867326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555399748	chr14:46867362-46867363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567289173	chr14:46867363-46867364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534607980	chr14:46867403-46867404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142236177	chr14:46867452-46867453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10498398	chr14:46867489-46867490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376932930	chr14:46867497-46867498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546482819	chr14:46867534-46867535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111815860	chr14:46867551-46867552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543036258	chr14:46867581-46867582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576542380	chr14:46867636-46867637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556517671	chr14:46867661-46867662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543700905	chr14:46867680-46867681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373762175	chr14:46867727-46867728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113309638	chr14:46867765-46867766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541012153	chr14:46867777-46867778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536236510	chr14:46867786-46867787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577103562	chr14:46867789-46867790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533177784	chr14:46867858-46867859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545771882	chr14:46867938-46867939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143060436	chr14:46867995-46867996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10646740	chr14:46867996-46867997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111511362	chr14:46867997-46867998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199639625	chr14:46867998-46867999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34204325	chr14:46868000-46868001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370518137	chr14:46868023-46868024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569861802	chr14:46868059-46868060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184908375	chr14:46868083-46868084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572960916	chr14:46868086-46868087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373951265	chr14:46868103-46868104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189424359	chr14:46868124-46868125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534452720	chr14:46868135-46868136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78973910	chr14:46868199-46868200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140317324	chr14:46868210-46868211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562185342	chr14:46868239-46868240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145425517	chr14:46868245-46868246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558482331	chr14:46868262-46868263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534035696	chr14:46868296-46868297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs137939579	chr14:46868319-46868320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368637855	chr14:46868335-46868336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140945483	chr14:46868349-46868350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574194176	chr14:46868358-46868359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541099752	chr14:46868405-46868406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144669683	chr14:46868412-46868413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552767153	chr14:46868457-46868458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545040662	chr14:46868459-46868460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531001571	chr14:46868469-46868470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138397700	chr14:46868472-46868473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46866800-46868600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr14:46867200-46868400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:46868400-46868800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr14:46868400-46869200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr14:46868400-46869200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:46868400-46869800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:46868600-46869600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:46869000-46869400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:46869200-46871000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:46869200-46874200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:46869400-46869600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:46869400-46873000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:46869600-46871800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:46869800-46871800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:46869800-46872200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:46870400-46870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:46870400-46870600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr14:46870600-46872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:46870800-46872000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:46871000-46871600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr14:46871600-46874400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:46871800-46872400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:46871800-46874200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr14:46871800-46874400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:46871800-46875200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:46871800-46877200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:46872000-46872200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr14:46872000-46875000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr14:46872200-46873000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:46872200-46877800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:46872400-46872800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr14:46872800-46875000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr14:46873000-46873600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:46873000-46876200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:46873200-46873600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:46873200-46874400	Enhancers	Fetal Lung	lung
37	chr14:46873200-46876000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:46873400-46874200	Enhancers	Fetal Kidney	kidney
39	chr14:46873400-46876000	Enhancers	Brain Germinal Matrix	brain
40	chr14:46873600-46874000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:46873600-46874800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:46874000-46874200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr14:46874000-46874200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr14:46874200-46874600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:46874200-46874600	Active TSS	Brain Anterior Caudate	brain
46	chr14:46874200-46874600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr14:46874200-46874800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr14:46874200-46874800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:46874200-46874800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr14:46874200-46874800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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