Variant report

Variant	esv3364491
Chromosome Location	chr14:41608919-41740916
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	chr14:41488666..41490358-chr14:41674438..41676053,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-1	chr14:41610037-41610251	NR_109758

Extended variants
information (count: 1694 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1694 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542490673	chr14:41608932-41608933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560746987	chr14:41608938-41608939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528412065	chr14:41608965-41608966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576282080	chr14:41609018-41609019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187537471	chr14:41609020-41609021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10147100	chr14:41609061-41609062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76033490	chr14:41609075-41609076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192880985	chr14:41609115-41609116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375867244	chr14:41609117-41609118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185880570	chr14:41609153-41609154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377640362	chr14:41609232-41609233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551072901	chr14:41609263-41609264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145952231	chr14:41609278-41609279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536729552	chr14:41609279-41609280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202069231	chr14:41609306-41609307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200007492	chr14:41609307-41609308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201099120	chr14:41609314-41609315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs36179239	chr14:41609320-41609321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10147317	chr14:41609324-41609325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559247571	chr14:41609329-41609330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12891112	chr14:41609330-41609331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538221329	chr14:41609363-41609364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371458631	chr14:41609364-41609365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556899524	chr14:41609368-41609369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4448872	chr14:41609369-41609370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542699215	chr14:41609388-41609389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368662028	chr14:41609407-41609408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372212980	chr14:41609436-41609437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572654777	chr14:41609455-41609456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375249241	chr14:41609456-41609457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540162030	chr14:41609461-41609462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369476284	chr14:41609503-41609504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4561396	chr14:41609524-41609525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550728323	chr14:41609531-41609532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139365863	chr14:41609554-41609555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530174093	chr14:41609569-41609570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548658782	chr14:41609737-41609738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567070887	chr14:41609739-41609740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534362240	chr14:41609746-41609747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181037322	chr14:41609775-41609776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375324963	chr14:41609777-41609778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113423769	chr14:41609778-41609779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6572065	chr14:41609811-41609812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538508495	chr14:41609827-41609828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7494012	chr14:41609835-41609836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs3985183	chr14:41609869-41609870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs146900037	chr14:41609890-41609891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183679850	chr14:41609984-41609985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147884303	chr14:41610032-41610033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10133073	chr14:41610053-41610054	Weak transcription	lncRNA	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
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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41606200-41615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:41611200-41613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:41611400-41613800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:41613600-41613800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:41613600-41614000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:41613600-41614800	Enhancers	HMEC	breast
7	chr14:41613600-41615200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:41613800-41614400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:41613800-41615000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:41614400-41616400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:41615000-41615200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:41615800-41616000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:41623000-41625400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:41623400-41623800	Weak transcription	Pancreas	Pancrea
15	chr14:41623400-41624000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr14:41623400-41626000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:41623800-41624000	ZNF genes & repeats	Pancreas	Pancrea
18	chr14:41640200-41640600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:41640200-41640800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:41669600-41669800	Bivalent Enhancer	Left Ventricle	heart
21	chr14:41673000-41673200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:41674400-41674600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr14:41674400-41675000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:41674400-41675000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:41674400-41675200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr14:41674600-41674800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr14:41674800-41675000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr14:41674800-41675200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr14:41674800-41675400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr14:41674800-41675600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr14:41675000-41679600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:41675200-41675400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:41675200-41675400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr14:41675400-41675600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr14:41696200-41696800	Enhancers	Liver	Liver
36	chr14:41696400-41696800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:41696800-41699800	Weak transcription	Liver	Liver
38	chr14:41699800-41700400	Enhancers	Liver	Liver
39	chr14:41700400-41703800	Weak transcription	Liver	Liver
40	chr14:41703800-41705600	Enhancers	Liver	Liver
41	chr14:41715400-41716000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:41715400-41716000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr14:41722000-41722400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:41722000-41722400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:41722000-41723000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:41722000-41723200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:41723200-41734200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:41726400-41727200	Enhancers	Liver	Liver
49	chr14:41734200-41734600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:41736400-41737800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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