Variant report

Variant	nsv525070
Chromosome Location	chr14:40302876-40353756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:40347440..40349018-chr14:40350827..40353513,2	MCF-7	breast:
2	chr1:28974867..28975558-chr14:40330913..40331413,2	Hela-S3	cervix:
3	chr14:40327383..40329209-chr14:40330906..40333385,2	K562	blood:
4	chr14:40347954..40350203-chr14:40354065..40355605,2	MCF-7	breast:
5	chr14:40316700..40317200-chr8:48779245..48779746,2	Hela-S3	cervix:
6	chr14:40347440..40349018-chr14:40350827..40353513,2	MCF-7	breast:
7	chr14:40327383..40329209-chr14:40330906..40333385,2	K562	blood:

Variant related genes	Relation type
ENSG00000270103	chromatin interactions

Extended variants
information (count: 1398 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1398 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4903057	chr14:40302876-40302877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368267341	chr14:40302945-40302946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77208311	chr14:40302956-40302957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543960196	chr14:40302988-40302989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564240330	chr14:40303113-40303114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532931002	chr14:40303119-40303120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540251413	chr14:40303145-40303146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116759114	chr14:40303158-40303159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191415920	chr14:40303165-40303166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532928291	chr14:40303220-40303221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577943524	chr14:40303282-40303283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368597161	chr14:40303293-40303294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374505561	chr14:40303336-40303337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546263020	chr14:40303427-40303428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs551450335	chr14:40303440-40303441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs566474837	chr14:40303457-40303458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs62016729	chr14:40303463-40303464	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553715703	chr14:40303475-40303476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs576665112	chr14:40303479-40303480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs568552716	chr14:40303496-40303497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs531170560	chr14:40303501-40303502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550777124	chr14:40303509-40303510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs570944505	chr14:40303523-40303524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs539413413	chr14:40303531-40303532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs35782887	chr14:40303540-40303541	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566382243	chr14:40303547-40303548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs182853185	chr14:40303586-40303587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555671299	chr14:40303587-40303588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs373569034	chr14:40303592-40303593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs145704377	chr14:40303595-40303596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575328602	chr14:40303599-40303600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs568247200	chr14:40309005-40309006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs62016732	chr14:40309007-40309008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188174683	chr14:40309066-40309067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552881894	chr14:40309076-40309077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572928119	chr14:40309089-40309090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370733134	chr14:40309120-40309121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191711561	chr14:40309239-40309240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555133307	chr14:40309245-40309246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184667625	chr14:40309266-40309267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544180317	chr14:40309279-40309280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564066429	chr14:40309291-40309292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532997508	chr14:40309294-40309295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141122967	chr14:40309329-40309330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191404049	chr14:40309333-40309334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550625221	chr14:40309369-40309370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57157305	chr14:40309370-40309371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187401991	chr14:40309378-40309379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528643363	chr14:40309384-40309385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148204840	chr14:40309419-40309420	Weak transcription	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40300800-40303400	Weak transcription	Gastric	stomach
2	chr14:40303400-40303600	ZNF genes & repeats	Gastric	stomach
3	chr14:40309000-40309200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:40309200-40313400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:40309600-40310200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:40310000-40310400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:40313000-40313400	Enhancers	Fetal Intestine Large	intestine
8	chr14:40313400-40313600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:40316400-40318400	Enhancers	Fetal Heart	heart
10	chr14:40323000-40323800	Enhancers	Fetal Heart	heart
11	chr14:40323800-40328200	Weak transcription	Fetal Heart	heart
12	chr14:40326600-40327000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:40327000-40327200	Enhancers	Fetal Intestine Large	intestine
14	chr14:40327200-40327800	Weak transcription	Fetal Intestine Large	intestine
15	chr14:40327800-40333600	Enhancers	Fetal Intestine Large	intestine
16	chr14:40328000-40329000	Enhancers	HepG2	liver
17	chr14:40328200-40328600	Enhancers	Fetal Intestine Small	intestine
18	chr14:40328200-40329000	Enhancers	Fetal Heart	heart
19	chr14:40328600-40330000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:40328600-40330000	Weak transcription	Fetal Intestine Small	intestine
21	chr14:40329800-40330200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:40329800-40330200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr14:40329800-40330200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:40329800-40330400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:40329800-40330800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:40329800-40330800	Enhancers	Brain Germinal Matrix	brain
27	chr14:40329800-40331200	Enhancers	Fetal Muscle Leg	muscle
28	chr14:40330000-40330600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr14:40330000-40330600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:40330000-40332000	Enhancers	Fetal Intestine Small	intestine
31	chr14:40330200-40330800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:40332000-40333000	Weak transcription	Fetal Intestine Small	intestine
33	chr14:40332800-40333000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:40333000-40333200	Enhancers	Fetal Intestine Small	intestine
35	chr14:40333400-40348600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:40337000-40338000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:40337000-40338200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:40337200-40337400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr14:40337200-40337400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:40337200-40338000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:40337200-40338000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:40337200-40338000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr14:40337200-40338200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr14:40337200-40338200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr14:40337200-40339000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr14:40337600-40338000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr14:40337600-40338000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:40337600-40338200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:40337800-40338400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:40338000-40338200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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