Variant report

Variant	esv3424823
Chromosome Location	chr14:40816251-40835900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 833 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139473064	chr14:40816301-40816302	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564869078	chr14:40816319-40816320	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535462834	chr14:40816320-40816321	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533678988	chr14:40816450-40816451	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7160314	chr14:40816453-40816454	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558471268	chr14:40816474-40816475	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199835508	chr14:40816524-40816525	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149735224	chr14:40816525-40816526	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202128272	chr14:40816527-40816528	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10649255	chr14:40816528-40816529	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529458326	chr14:40816541-40816542	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369787488	chr14:40816581-40816582	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79030433	chr14:40816604-40816605	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs35679703	chr14:40816620-40816621	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569363087	chr14:40816623-40816624	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs7160818	chr14:40816683-40816684	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551403718	chr14:40816696-40816697	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs573045406	chr14:40816719-40816720	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571265246	chr14:40816775-40816776	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs117775264	chr14:40816779-40816780	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181345661	chr14:40816803-40816804	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185838549	chr14:40816825-40816826	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76353079	chr14:40816830-40816831	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576249532	chr14:40816884-40816885	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs151151572	chr14:40816919-40816920	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564879202	chr14:40816941-40816942	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543860014	chr14:40816944-40816945	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572045130	chr14:40816948-40816949	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10142213	chr14:40816962-40816963	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560877829	chr14:40816969-40816970	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190213345	chr14:40817033-40817034	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs80289642	chr14:40817041-40817042	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10131202	chr14:40817044-40817045	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552425435	chr14:40817072-40817073	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531702712	chr14:40817092-40817093	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551413701	chr14:40817115-40817116	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183629927	chr14:40817119-40817120	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186788750	chr14:40817141-40817142	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547459280	chr14:40817154-40817155	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570727746	chr14:40817156-40817157	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567578895	chr14:40817169-40817170	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536151582	chr14:40817170-40817171	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556362086	chr14:40817194-40817195	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79625555	chr14:40817207-40817208	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs538761542	chr14:40817240-40817241	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs141203778	chr14:40817248-40817249	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs192004666	chr14:40817280-40817281	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541052030	chr14:40817284-40817285	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs7143534	chr14:40817290-40817291	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs147591797	chr14:40817297-40817298	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Invasive pancreatic ductal carcinoma	16982739	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
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	19805367	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40813400-40816800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:40815400-40817800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr14:40815400-40817800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:40815600-40817800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:40815800-40817600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:40815800-40817800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr14:40815800-40817800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:40816000-40816600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:40816000-40817800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:40816600-40816800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:40816600-40817600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr14:40816600-40817800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:40816800-40817200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr14:40816800-40817200	Enhancers	Fetal Kidney	kidney
15	chr14:40816800-40817600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:40816800-40817600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:40816800-40817800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr14:40816800-40817800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:40816800-40817800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:40816800-40817800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:40817000-40817600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:40817000-40817600	Active TSS	Fetal Stomach	stomach
23	chr14:40817000-40817800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:40817200-40817600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:40817200-40817600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:40817200-40817600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr14:40817600-40817800	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr14:40817800-40823600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:40823600-40823800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr14:40823600-40825200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:40823600-40825200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr14:40823600-40825400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:40823600-40825400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr14:40823600-40825400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr14:40823800-40825200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:40824200-40824400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr14:40824400-40825200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:40825200-40825400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr14:40825200-40825600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr14:40826800-40828200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:40827800-40828200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:40828600-40829200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:40828600-40829400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:40828800-40829200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr14:40828800-40829400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr14:40829400-40831200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:40829400-40831800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:40830200-40830600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:40830600-40831600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:40831200-40832800	Enhancers	HUES6 Cell Line	embryonic stem cell

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