Variant report

Variant	nsv456213
Chromosome Location	chr14:40513267-40731102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:40608613..40610201-chr14:40616714..40618460,3	MCF-7	breast:
2	chr14:40676693..40679058-chr14:40690330..40692454,2	MCF-7	breast:
3	chr14:40665163..40668021-chr14:40668586..40671186,2	MCF-7	breast:
4	chr14:40570496..40572299-chr14:40575193..40577238,2	MCF-7	breast:
5	chr14:40669052..40670615-chr14:40680616..40683029,2	MCF-7	breast:
6	chr14:40681513..40685602-chr14:40687253..40690509,3	MCF-7	breast:
7	chr14:40524963..40526539-chr14:40536036..40538411,2	MCF-7	breast:
8	chr14:40608918..40609568-chr14:40618396..40619170,2	MCF-7	breast:
9	chr14:40665163..40668021-chr14:40668586..40671186,2	MCF-7	breast:
10	chr14:40608613..40610201-chr14:40616714..40618460,3	MCF-7	breast:
11	chr14:40721840..40722668-chr15:81828412..81828932,3	MCF-7	breast:
12	chr14:40608918..40609568-chr14:40618396..40619170,2	MCF-7	breast:
13	chr14:40690264..40692278-chr14:40698670..40700192,2	MCF-7	breast:
14	chr14:40524963..40526539-chr14:40536036..40538411,2	MCF-7	breast:
15	chr14:40672645..40675183-chr14:40686858..40690836,3	MCF-7	breast:
16	chr14:40570496..40572299-chr14:40575193..40577238,2	MCF-7	breast:
17	chr14:40653379..40656063-chr14:40662634..40665272,2	MCF-7	breast:
18	chr14:40672645..40675183-chr14:40686858..40690836,3	MCF-7	breast:
19	chr14:40653379..40656063-chr14:40662634..40665272,2	MCF-7	breast:
20	chr14:40676693..40679058-chr14:40690330..40692454,2	MCF-7	breast:
21	chr14:40690264..40692278-chr14:40698670..40700192,2	MCF-7	breast:
22	chr14:40691066..40691614-chr14:40740770..40741278,2	MCF-7	breast:
23	chr14:40669052..40670615-chr14:40680616..40683029,2	MCF-7	breast:
24	chr14:40681513..40685602-chr14:40687253..40690509,3	MCF-7	breast:
25	chr14:40534564..40535391-chr2:55398502..55399026,2	MCF-7	breast:

No data

Extended variants
information (count: 1250 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115594724	chr14:40520602-40520603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552559853	chr14:40520640-40520641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566389279	chr14:40520651-40520652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535183210	chr14:40520666-40520667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564710836	chr14:40520726-40520727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146412410	chr14:40520746-40520747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528630785	chr14:40520801-40520802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568562463	chr14:40520821-40520822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377384513	chr14:40520835-40520836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140822305	chr14:40520899-40520900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570167575	chr14:40520910-40520911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577195142	chr14:40520942-40520943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61166269	chr14:40520968-40520969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550811056	chr14:40520975-40520976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151171150	chr14:40520978-40520979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572805859	chr14:40520998-40520999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192072014	chr14:40521012-40521013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377698904	chr14:40521192-40521193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371157873	chr14:40521255-40521256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73289327	chr14:40521309-40521310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544326103	chr14:40521395-40521396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76427027	chr14:40521409-40521410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184844485	chr14:40521446-40521447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546625680	chr14:40521450-40521451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2208192	chr14:40521453-40521454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539737244	chr14:40521459-40521460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528839026	chr14:40521500-40521501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555232107	chr14:40521508-40521509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73289330	chr14:40521525-40521526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs543947226	chr14:40521543-40521544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561042529	chr14:40521595-40521596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529891526	chr14:40521642-40521643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572999657	chr14:40521686-40521687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28597700	chr14:40521698-40521699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570866339	chr14:40521720-40521721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539401865	chr14:40521725-40521726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552998393	chr14:40521740-40521741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368033670	chr14:40521746-40521747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541758989	chr14:40521766-40521767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555479118	chr14:40521784-40521785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10130863	chr14:40521819-40521820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373781776	chr14:40521847-40521848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536454005	chr14:40521976-40521977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114968340	chr14:40521977-40521978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544095128	chr14:40521978-40521979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189169555	chr14:40522029-40522030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140544504	chr14:40522042-40522043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372393791	chr14:40522050-40522051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376429279	chr14:40522057-40522058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180848036	chr14:40522098-40522099	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
abnormal development	18461090	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
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD
Intracranial tumor	22048656	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40520600-40520800	Enhancers	Fetal Brain Male	brain
2	chr14:40520800-40522000	Weak transcription	Fetal Brain Male	brain
3	chr14:40522000-40523400	Enhancers	Fetal Brain Male	brain
4	chr14:40522600-40523000	Enhancers	Fetal Stomach	stomach
5	chr14:40522600-40523200	Enhancers	Fetal Muscle Leg	muscle
6	chr14:40522600-40523400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr14:40522600-40523400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr14:40522800-40523200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:40522800-40523400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:40522800-40523600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:40522800-40523600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:40522800-40523800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr14:40523000-40523400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:40523200-40524200	Weak transcription	Fetal Muscle Leg	muscle
15	chr14:40524400-40524600	Enhancers	Fetal Muscle Leg	muscle
16	chr14:40527400-40527600	Enhancers	Colon Smooth Muscle	Colon
17	chr14:40527400-40529000	Enhancers	Fetal Intestine Small	intestine
18	chr14:40527600-40528200	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:40528200-40529000	Enhancers	Colon Smooth Muscle	Colon
20	chr14:40528400-40528800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:40528800-40529000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:40536800-40537000	ZNF genes & repeats	Aorta	Aorta
23	chr14:40538000-40543000	Weak transcription	Aorta	Aorta
24	chr14:40543000-40543600	ZNF genes & repeats	Aorta	Aorta
25	chr14:40543200-40543600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:40543200-40544000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:40544400-40544600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:40566400-40567200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr14:40566400-40567600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr14:40568200-40569000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:40582400-40583600	Enhancers	HepG2	liver
32	chr14:40582600-40583400	Enhancers	Liver	Liver
33	chr14:40588600-40589000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:40588600-40589800	Enhancers	GM12878-XiMat	blood
35	chr14:40588800-40589400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:40588800-40590000	Enhancers	Colon Smooth Muscle	Colon
37	chr14:40589000-40593600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:40589400-40589800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:40589800-40590000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:40589800-40590000	Enhancers	Fetal Kidney	kidney
41	chr14:40589800-40592400	Weak transcription	GM12878-XiMat	blood
42	chr14:40590000-40591800	Weak transcription	Colon Smooth Muscle	Colon
43	chr14:40590000-40592000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:40590200-40591200	Weak transcription	Fetal Kidney	kidney
45	chr14:40591000-40593600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:40591200-40594000	Enhancers	Fetal Kidney	kidney
47	chr14:40591400-40593400	Enhancers	Brain Germinal Matrix	brain
48	chr14:40591800-40593800	Enhancers	Colon Smooth Muscle	Colon
49	chr14:40592000-40592200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:40592000-40592200	Enhancers	HUES48 Cell Line	embryonic stem cell

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