Variant report

Variant	nsv525101
Chromosome Location	chr14:47730954-47746980
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	chr14:47729955..47732269-chr14:47732563..47734465,2	MCF-7	breast:
2	chr14:47729955..47732269-chr14:47732563..47734465,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-12	chr14:47743855-47743971	l_979_chr14:47733075-47748994_testes
2	lnc-FANCM-12	chr14:47733076-47733185	l_979_chr14:47733075-47748994_testes

Extended variants
information (count: 452 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:452 , 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	rs1958098	chr14:47730954-47730955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529362697	chr14:47730956-47730957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114009141	chr14:47730966-47730967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566255556	chr14:47730993-47730994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74763283	chr14:47730997-47730998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186295821	chr14:47731051-47731052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146271789	chr14:47731075-47731076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73251650	chr14:47731094-47731095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549318508	chr14:47731130-47731131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1952212	chr14:47731166-47731167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs376270866	chr14:47731253-47731254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565146250	chr14:47731291-47731292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191212314	chr14:47731369-47731370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535166759	chr14:47731432-47731433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375777558	chr14:47731445-47731446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555217326	chr14:47731449-47731450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572184603	chr14:47731490-47731491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376336358	chr14:47731522-47731523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534551932	chr14:47731525-47731526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117811801	chr14:47731564-47731565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557948553	chr14:47731567-47731568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554515945	chr14:47731645-47731646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138236596	chr14:47731694-47731695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75324743	chr14:47731696-47731697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563636121	chr14:47731701-47731702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372164915	chr14:47731750-47731751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183422798	chr14:47731751-47731752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543106277	chr14:47731772-47731773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17123	chr14:47731782-47731783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528599879	chr14:47731789-47731790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551652080	chr14:47731791-47731792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77105812	chr14:47731804-47731805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143718117	chr14:47731807-47731808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567132347	chr14:47731826-47731827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550902165	chr14:47731845-47731846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186076173	chr14:47731878-47731879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190754611	chr14:47731905-47731906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11627021	chr14:47731906-47731907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565605259	chr14:47731909-47731910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375401917	chr14:47731974-47731975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557623193	chr14:47731978-47731979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577253276	chr14:47731991-47731992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1958099	chr14:47732038-47732039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs537334564	chr14:47732057-47732058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557341186	chr14:47732119-47732120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372064500	chr14:47732134-47732135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574065054	chr14:47732137-47732138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542620076	chr14:47732194-47732195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10484188	chr14:47732229-47732230	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573207066	chr14:47732242-47732243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastric cancer	18160780	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47730200-47731200	Enhancers	Fetal Brain Male	brain
2	chr14:47731000-47732200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:47731000-47732600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:47731800-47733000	Enhancers	NHEK	skin
5	chr14:47732200-47732600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:47732600-47733000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:47734000-47734400	Enhancers	Liver	Liver
8	chr14:47737200-47739400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:47738800-47739000	Enhancers	Colon Smooth Muscle	Colon
10	chr14:47739000-47739200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:47739000-47739800	Active TSS	Colon Smooth Muscle	Colon
12	chr14:47739000-47740200	Active TSS	Stomach Smooth Muscle	stomach
13	chr14:47739200-47739400	Enhancers	Gastric	stomach
14	chr14:47739200-47739600	Active TSS	Brain Anterior Caudate	brain
15	chr14:47739200-47739600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr14:47739200-47739600	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr14:47739200-47739800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:47739400-47741800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:47739600-47739800	Active TSS	Rectal Smooth Muscle	rectum
20	chr14:47739800-47740400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:47740000-47740200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr14:47740200-47740800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:47741800-47746400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:47745000-47745200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:47746000-47747200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:47746000-47747600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr14:47746200-47746800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr14:47746200-47747200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:47746200-47747200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:47746200-47747400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:47746200-47747600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:47746400-47747000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr14:47746400-47747000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:47746400-47747400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:47746800-47747400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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