Variant report

Variant	nsv1035624
Chromosome Location	chr14:42233578-42262107
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	chr14:42256040..42257866-chr14:42258300..42261086,2	MCF-7	breast:
2	chr14:42256040..42257866-chr14:42258300..42261086,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-2	chr14:42236057-42236165	NONHSAT036579
2	lnc-LRFN5-2	chr14:42236057-42236232	NONHSAT036578

Extended variants
information (count: 422 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2038362	chr14:42234257-42234258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567238061	chr14:42234270-42234271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574574527	chr14:42234314-42234315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541946978	chr14:42234315-42234316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560107063	chr14:42234349-42234350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535901323	chr14:42234389-42234390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35660536	chr14:42234461-42234462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149341355	chr14:42234488-42234489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575807079	chr14:42234493-42234494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181987642	chr14:42234511-42234512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532047580	chr14:42234525-42234526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368160928	chr14:42234527-42234528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371296414	chr14:42234531-42234532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77777253	chr14:42234557-42234558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372378786	chr14:42234558-42234559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200170277	chr14:42234559-42234560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554640696	chr14:42234560-42234561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397852173	chr14:42234575-42234576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36071709	chr14:42234576-42234577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568699639	chr14:42234697-42234698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11627732	chr14:42234742-42234743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369836638	chr14:42234778-42234779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553568926	chr14:42234828-42234829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144669526	chr14:42234855-42234856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558558354	chr14:42234878-42234879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148541151	chr14:42234885-42234886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144288659	chr14:42234949-42234950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572334591	chr14:42234995-42234996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17781373	chr14:42235024-42235025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538172044	chr14:42235026-42235027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555915966	chr14:42235063-42235064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574334274	chr14:42235075-42235076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541633494	chr14:42235084-42235085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs207474719	chr14:42235094-42235095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186209517	chr14:42235139-42235140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190731275	chr14:42235178-42235179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572526612	chr14:42235188-42235189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs8019655	chr14:42235190-42235191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564539880	chr14:42235213-42235214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78282146	chr14:42235267-42235268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146246372	chr14:42235278-42235279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181576737	chr14:42235326-42235327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542435891	chr14:42235329-42235330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139256891	chr14:42235333-42235334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548010396	chr14:42235379-42235380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566413510	chr14:42235403-42235404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533902986	chr14:42235440-42235441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186342354	chr14:42235463-42235464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570454369	chr14:42235488-42235489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537744835	chr14:42235497-42235498	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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42234200-42243400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:42235600-42236200	Enhancers	Fetal Brain Male	brain
3	chr14:42237800-42239600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:42239200-42241600	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:42242800-42243400	Enhancers	Fetal Lung	lung
6	chr14:42243000-42243800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:42243400-42243600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:42251800-42252600	Enhancers	Colon Smooth Muscle	Colon
9	chr14:42255000-42255400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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