Variant report

Variant	esv3446475
Chromosome Location	chr14:41252251-41276720
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-6	chr14:41274653-41274721	NONHSAT036561

Extended variants
information (count: 124 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376744714	chr14:41254217-41254218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs541389772	chr14:41254218-41254219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs146709194	chr14:41254219-41254220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs185734172	chr14:41254231-41254232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373476721	chr14:41254263-41254264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs545503775	chr14:41254264-41254265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs190678586	chr14:41254265-41254266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554072920	chr14:41254271-41254272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs549361520	chr14:41254281-41254282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs74044273	chr14:41254286-41254287	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534938660	chr14:41254320-41254321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs36066141	chr14:41254343-41254344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139272053	chr14:41254360-41254361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs61986194	chr14:41254376-41254377	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572715260	chr14:41254377-41254378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565360021	chr14:41254387-41254388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112352179	chr14:41254435-41254436	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs535335031	chr14:41254448-41254449	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs551439874	chr14:41254449-41254450	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs143300181	chr14:41254451-41254452	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs147548656	chr14:41254467-41254468	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555274725	chr14:41254498-41254499	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs148586996	chr14:41254633-41254634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534929902	chr14:41254682-41254683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553373048	chr14:41254706-41254707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199824296	chr14:41254733-41254734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578054102	chr14:41254754-41254755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545114820	chr14:41254757-41254758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557426072	chr14:41254816-41254817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575655626	chr14:41254882-41254883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77540481	chr14:41254883-41254884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141819357	chr14:41254886-41254887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79369964	chr14:41254928-41254929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182086744	chr14:41254929-41254930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565272450	chr14:41254941-41254942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532930272	chr14:41254951-41254952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186244412	chr14:41254955-41254956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575552289	chr14:41254956-41254957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190718781	chr14:41254958-41254959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111733735	chr14:41254971-41254972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530529473	chr14:41254984-41254985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549124966	chr14:41254991-41254992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77742597	chr14:41254997-41254998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578023726	chr14:41255002-41255003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117055927	chr14:41255005-41255006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553287525	chr14:41255059-41255060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571616942	chr14:41255078-41255079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538979206	chr14:41255092-41255093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61986195	chr14:41255168-41255169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182767232	chr14:41255187-41255188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41254200-41254600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:41254400-41254800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:41254600-41255400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:41264600-41266200	Enhancers	Liver	Liver
5	chr14:41265400-41266200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:41265600-41266000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:41265600-41266000	Enhancers	HUES6 Cell Line	embryonic stem cell

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