Variant report

Variant	nsv564499
Chromosome Location	chr14:41610607-41674903
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:

Extended variants
information (count: 435 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:435 , 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	rs6572067	chr14:41610607-41610608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560484536	chr14:41610626-41610627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146023500	chr14:41610654-41610655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527832034	chr14:41610670-41610671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546280351	chr14:41610708-41610709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564530068	chr14:41610709-41610710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2415731	chr14:41610732-41610733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550222948	chr14:41610771-41610772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568772962	chr14:41610841-41610842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528128748	chr14:41610846-41610847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547830688	chr14:41610879-41610880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185310205	chr14:41611020-41611021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533648559	chr14:41611099-41611100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558573267	chr14:41611124-41611125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561898232	chr14:41611147-41611148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2415732	chr14:41611156-41611157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138536819	chr14:41611221-41611222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538997658	chr14:41611302-41611303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574812167	chr14:41611319-41611320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542140517	chr14:41611330-41611331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141491140	chr14:41611365-41611366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12323530	chr14:41611372-41611373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534626252	chr14:41611373-41611374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189101319	chr14:41611379-41611380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144499935	chr14:41611432-41611433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2415733	chr14:41611504-41611505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2415734	chr14:41611508-41611509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375183452	chr14:41611524-41611525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371965877	chr14:41611579-41611580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2415735	chr14:41611585-41611586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77035809	chr14:41611598-41611599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2415736	chr14:41611627-41611628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs75271566	chr14:41611632-41611633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61984076	chr14:41611634-41611635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547641452	chr14:41611661-41611662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181642535	chr14:41611679-41611680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148416493	chr14:41611688-41611689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551070273	chr14:41611696-41611697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564309326	chr14:41611740-41611741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7155394	chr14:41611756-41611757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187610707	chr14:41611771-41611772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7156499	chr14:41611790-41611791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535753196	chr14:41611796-41611797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554082676	chr14:41611818-41611819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11157203	chr14:41611850-41611851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7156540	chr14:41611855-41611856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7155740	chr14:41611878-41611879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs56339458	chr14:41611897-41611898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78522245	chr14:41611934-41611935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567340332	chr14:41611935-41611936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:30 , 50 per page) page: 1

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

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