Variant report

Variant	nsv1050378
Chromosome Location	chr14:64686543-64703012
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64682391..64682932-chr14:64701375..64701946,2	MCF-7	breast:
2	chr14:64699270..64701391-chr14:64702522..64704154,2	MCF-7	breast:
3	chr14:64701273..64703199-chr14:64731826..64734576,2	MCF-7	breast:
4	chr14:64694405..64698467-chr14:64698699..64701055,4	MCF-7	breast:
5	chr14:64694405..64698467-chr14:64698699..64701055,4	MCF-7	breast:
6	chr14:64698101..64700318-chr14:64700621..64702248,2	MCF-7	breast:
7	chr14:64682391..64683248-chr14:64701375..64702283,4	MCF-7	breast:
8	chr14:64686951..64687454-chr14:64761385..64761923,2	MCF-7	breast:
9	chr14:64699270..64701391-chr14:64702522..64704154,2	MCF-7	breast:
10	chr14:64701764..64704749-chr14:64970192..64972112,2	MCF-7	breast:
11	chr14:64701457..64702120-chr14:64765041..64765931,2	MCF-7	breast:
12	chr14:64698101..64700318-chr14:64700621..64702248,2	MCF-7	breast:
13	chr14:64690892..64693639-chr14:64700268..64702860,3	MCF-7	breast:
14	chr14:64681860..64684849-chr14:64698718..64700886,3	MCF-7	breast:
15	chr14:64701411..64702290-chr14:64764943..64765931,3	MCF-7	breast:
16	chr14:64701659..64704399-chr14:64760187..64762657,2	MCF-7	breast:
17	chr14:64673841..64676704-chr14:64685476..64687176,2	MCF-7	breast:
18	chr14:64679731..64682814-chr14:64685372..64689145,3	MCF-7	breast:
19	chr14:64685399..64687983-chr14:64689618..64691623,2	K562	blood:
20	chr14:64690892..64693639-chr14:64700268..64702860,3	MCF-7	breast:
21	chr14:64701804..64703412-chr14:64765136..64766748,2	MCF-7	breast:
22	chr14:64685399..64687983-chr14:64689618..64691623,2	K562	blood:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SYNE2	hsa-miR-1	chr14:64692617-64692638
2	SYNE2	hsa-miR-155-5p	chr14:64692547-64692567
3	ESR2	hsa-miR-92a-3p	chr14:64698268-64698289

Variant related genes	Relation type
ENSG00000126804	chromatin interactions
ENSG00000140009	chromatin interactions
ENSG00000054654	chromatin interactions
ENSG00000089775	chromatin interactions

Extended variants
information (count: 811 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:811 , 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	rs17179404	chr14:64686543-64686544	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140104515	chr14:64686568-64686569	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573403267	chr14:64686669-64686670	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542219288	chr14:64686689-64686690	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555816272	chr14:64686710-64686711	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575969711	chr14:64686719-64686720	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79363148	chr14:64686720-64686721	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2236530	chr14:64686757-64686758	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574000710	chr14:64686787-64686788	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143845568	chr14:64686814-64686815	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528411281	chr14:64686846-64686847	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114083368	chr14:64686851-64686852	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560168022	chr14:64686858-64686859	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528976405	chr14:64686871-64686872	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548153871	chr14:64686872-64686873	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116449584	chr14:64686893-64686894	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115909440	chr14:64686898-64686899	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542434459	chr14:64686902-64686903	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551644550	chr14:64686959-64686960	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571486975	chr14:64687034-64687035	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150847972	chr14:64687079-64687080	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547300290	chr14:64687096-64687097	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553784219	chr14:64687106-64687107	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371218203	chr14:64687137-64687138	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369096632	chr14:64687142-64687143	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182600079	chr14:64687150-64687151	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139826953	chr14:64687161-64687162	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371625294	chr14:64687172-64687173	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142798984	chr14:64687176-64687177	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561950108	chr14:64687180-64687181	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201444715	chr14:64687205-64687206	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs151115460	chr14:64687224-64687225	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139326092	chr14:64687256-64687257	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149978500	chr14:64687258-64687259	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537891720	chr14:64687261-64687262	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35763782	chr14:64687269-64687270	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149820891	chr14:64687270-64687271	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs578206329	chr14:64687275-64687276	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540792337	chr14:64687284-64687285	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550784659	chr14:64687292-64687293	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377293407	chr14:64687300-64687301	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34820571	chr14:64687305-64687306	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573360159	chr14:64687324-64687325	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs140676416	chr14:64687327-64687328	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200790517	chr14:64687328-64687329	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201256334	chr14:64687339-64687340	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562283612	chr14:64687341-64687342	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373128678	chr14:64687359-64687360	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374664616	chr14:64687386-64687387	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376962725	chr14:64687388-64687389	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64664000-64699600	Weak transcription	Small Intestine	intestine
2	chr14:64664200-64698600	Weak transcription	HMEC	breast
3	chr14:64665400-64700200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:64666800-64699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:64667400-64690200	Weak transcription	HepG2	liver
6	chr14:64672800-64696600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr14:64674600-64696000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:64674600-64696200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:64674600-64696400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:64674600-64699800	Strong transcription	Liver	Liver
11	chr14:64674800-64686800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:64674800-64689000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr14:64674800-64689000	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr14:64674800-64692400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:64674800-64692600	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:64674800-64692800	Strong transcription	Primary T cells from cord blood	blood
17	chr14:64674800-64695800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:64674800-64696000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:64674800-64696000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:64674800-64696000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:64674800-64696200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:64674800-64696200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:64674800-64696200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:64674800-64696400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr14:64674800-64696400	Strong transcription	Dnd41	blood
26	chr14:64674800-64696800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:64674800-64697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:64674800-64698400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:64674800-64699000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:64674800-64700000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:64674800-64700600	Strong transcription	Fetal Intestine Large	intestine
32	chr14:64675000-64689000	Strong transcription	Aorta	Aorta
33	chr14:64675000-64696400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:64675000-64696400	Strong transcription	Brain Germinal Matrix	brain
35	chr14:64675200-64696400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:64675400-64687600	Strong transcription	Brain Anterior Caudate	brain
37	chr14:64675400-64689200	Strong transcription	Rectal Smooth Muscle	rectum
38	chr14:64675400-64695200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:64675400-64696200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:64675600-64691800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:64676200-64690000	Weak transcription	Stomach Mucosa	stomach
42	chr14:64676600-64689000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:64676600-64696200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr14:64676800-64691200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:64676800-64698800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:64677000-64687200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:64677000-64698600	Weak transcription	NHLF	lung
48	chr14:64677000-64698800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr14:64677000-64699400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:64677200-64687200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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