Variant report

Variant	nsv564455
Chromosome Location	chr14:40717843-40789139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:40457857..40458829-chr14:40749466..40750494,4	MCF-7	breast:
2	chr14:40691066..40691614-chr14:40740770..40741278,2	MCF-7	breast:
3	chr14:40721840..40722668-chr15:81828412..81828932,3	MCF-7	breast:
4	chr14:40762742..40765094-chr14:40766225..40768679,2	K562	blood:
5	chr14:40762742..40765094-chr14:40766225..40768679,2	K562	blood:

Extended variants
information (count: 646 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1950223	chr14:40717843-40717844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574945540	chr14:40717844-40717845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543987810	chr14:40717865-40717866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186963696	chr14:40717896-40717897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370334582	chr14:40717930-40717931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546300981	chr14:40717974-40717975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559811502	chr14:40717976-40717977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537073155	chr14:40718010-40718011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533569294	chr14:40718018-40718019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373460213	chr14:40718019-40718020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528458078	chr14:40718035-40718036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145187092	chr14:40718078-40718079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561975441	chr14:40718096-40718097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530619913	chr14:40718100-40718101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574487266	chr14:40718130-40718131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149615157	chr14:40718142-40718143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376672240	chr14:40718248-40718249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61417653	chr14:40718268-40718269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528435615	chr14:40718291-40718292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190049993	chr14:40718294-40718295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138800195	chr14:40718319-40718320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375587085	chr14:40740601-40740602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181848604	chr14:40740606-40740607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185225385	chr14:40740615-40740616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113836324	chr14:40740639-40740640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115470347	chr14:40740661-40740662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147515652	chr14:40740734-40740735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536225574	chr14:40740895-40740896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77440671	chr14:40740941-40740942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548526743	chr14:40740949-40740950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72667432	chr14:40740954-40740955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530925099	chr14:40740961-40740962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181915704	chr14:40740996-40740997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550411689	chr14:40753009-40753010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563842756	chr14:40753032-40753033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17110417	chr14:40753040-40753041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552596599	chr14:40753046-40753047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566040798	chr14:40753090-40753091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535048279	chr14:40753126-40753127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140713928	chr14:40753153-40753154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17110419	chr14:40753184-40753185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536920623	chr14:40753186-40753187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145909233	chr14:40753202-40753203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551501922	chr14:40753250-40753251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369076959	chr14:40753255-40753256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566530424	chr14:40753316-40753317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374817872	chr14:40753383-40753384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576929074	chr14:40753398-40753399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539247531	chr14:40753421-40753422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113620949	chr14:40753424-40753425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Intellectual disability	22102821	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	19805367	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40717800-40718400	Enhancers	Fetal Kidney	kidney
2	chr14:40740600-40741000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:40740600-40741000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr14:40753000-40753200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:40753200-40753800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:40753800-40754400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:40755200-40756000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:40756400-40756800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:40761000-40763600	Enhancers	Primary B cells from cord blood	blood
10	chr14:40761400-40761600	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:40761600-40762200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr14:40762200-40763400	Enhancers	Primary B cells from peripheral blood	blood
13	chr14:40763000-40763200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:40777000-40777200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:40777000-40777200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:40777000-40787400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:40782000-40782400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:40787400-40788000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:40787400-40788000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:40787400-40788000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr14:40787600-40788000	Enhancers	HUES48 Cell Line	embryonic stem cell

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