Variant report

Variant	nsv516371
Chromosome Location	chr14:65710211-65712420
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65583338..65585299-chr14:65708352..65712057,3	MCF-7	breast:
2	chr14:65703752..65707201-chr14:65707603..65710596,4	MCF-7	breast:
3	chr14:65691185..65703550-chr14:65706694..65715001,23	MCF-7	breast:
4	chr14:65709528..65711067-chr14:65712244..65714160,2	MCF-7	breast:
5	chr14:65709528..65711067-chr14:65712244..65714160,2	MCF-7	breast:
6	chr14:65687275..65689393-chr14:65708965..65710587,2	MCF-7	breast:
7	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
8	chr14:65711767..65715817-chr14:65877100..65880952,4	MCF-7	breast:
9	chr14:65703266..65707350-chr14:65709369..65712516,3	K562	blood:
10	chr14:65630625..65634047-chr14:65708648..65711135,3	MCF-7	breast:
11	chr14:65709860..65711374-chr14:65803916..65806781,2	MCF-7	breast:
12	chr14:65708443..65711390-chr14:65727270..65732025,4	MCF-7	breast:
13	chr14:65710525..65712418-chr14:65882853..65884868,2	MCF-7	breast:
14	chr14:65708249..65716123-chr14:65876687..65882798,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258878	chromatin interactions
ENSG00000255002	chromatin interactions
ENSG00000033170	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1383595	chr14:65710211-65710212	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180705726	chr14:65710224-65710225	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs187197758	chr14:65710235-65710236	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs150266493	chr14:65710265-65710266	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs192510405	chr14:65710266-65710267	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs1760969	chr14:65710301-65710302	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183839618	chr14:65710302-65710303	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs376436407	chr14:65710334-65710335	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs554307110	chr14:65710391-65710392	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs72712447	chr14:65710399-65710400	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138972071	chr14:65710411-65710412	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs563030706	chr14:65710426-65710427	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs142138219	chr14:65710448-65710449	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs111784529	chr14:65710524-65710525	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs564948558	chr14:65710545-65710546	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs186229276	chr14:65710551-65710552	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs1256487	chr14:65710580-65710581	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190552726	chr14:65710582-65710583	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs539667207	chr14:65710668-65710669	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs146347381	chr14:65710689-65710690	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs60514832	chr14:65710707-65710708	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538935409	chr14:65710708-65710709	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555820878	chr14:65710714-65710715	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs114025963	chr14:65710745-65710746	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs4899169	chr14:65710756-65710757	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577174739	chr14:65710766-65710767	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534676854	chr14:65710787-65710788	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548075825	chr14:65710829-65710830	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs554345271	chr14:65710842-65710843	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs568196373	chr14:65710850-65710851	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs574509923	chr14:65710858-65710859	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542849251	chr14:65710867-65710868	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs556721453	chr14:65710874-65710875	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs139704595	chr14:65710883-65710884	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs182756636	chr14:65710891-65710892	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs187047997	chr14:65710904-65710905	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs142827902	chr14:65710962-65710963	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541063220	chr14:65710978-65710979	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs111655417	chr14:65711013-65711014	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs541989224	chr14:65711087-65711088	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs1256488	chr14:65711148-65711149	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1256489	chr14:65711180-65711181	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1256490	chr14:65711192-65711193	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572637524	chr14:65711202-65711203	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs532411920	chr14:65711215-65711216	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541656333	chr14:65711220-65711221	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs566006757	chr14:65711223-65711224	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs148711699	chr14:65711264-65711265	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs1256491	chr14:65711290-65711291	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs574935702	chr14:65711329-65711330	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65697400-65710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:65703400-65711800	Enhancers	Fetal Intestine Small	intestine
4	chr14:65704800-65710400	Weak transcription	Small Intestine	intestine
5	chr14:65705000-65710400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:65705000-65710600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:65706000-65710600	Weak transcription	NHEK	skin
8	chr14:65706600-65710400	Weak transcription	Pancreas	Pancrea
9	chr14:65706600-65710400	Weak transcription	HMEC	breast
10	chr14:65706600-65710400	Weak transcription	HSMM	muscle
11	chr14:65706600-65710600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:65706600-65718200	Weak transcription	Spleen	Spleen
13	chr14:65706800-65710400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:65706800-65710600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:65706800-65710600	Weak transcription	Osteobl	bone
16	chr14:65706800-65711000	Weak transcription	Hela-S3	cervix
17	chr14:65706800-65716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:65707000-65710400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:65707000-65710400	Weak transcription	NHDF-Ad	bronchial
20	chr14:65707000-65710600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:65707000-65710600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:65707000-65710800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr14:65707000-65716200	Weak transcription	Brain Anterior Caudate	brain
24	chr14:65708400-65710400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:65708400-65710400	Weak transcription	Fetal Thymus	thymus
26	chr14:65708400-65716200	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:65708400-65716200	Weak transcription	Brain Substantia Nigra	brain
28	chr14:65708800-65710600	Enhancers	HUVEC	blood vessel
29	chr14:65709000-65710600	Weak transcription	GM12878-XiMat	blood
30	chr14:65709000-65713200	Enhancers	Fetal Intestine Large	intestine
31	chr14:65709200-65710600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr14:65709200-65711400	Flanking Active TSS	A549	lung
33	chr14:65709400-65711000	Flanking Active TSS	HepG2	liver
34	chr14:65709600-65711200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr14:65709800-65710800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr14:65709800-65711000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:65709800-65711000	Enhancers	Placenta	Placenta
38	chr14:65709800-65711200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:65709800-65711600	Enhancers	NH-A	brain
40	chr14:65710000-65710400	Enhancers	Gastric	stomach
41	chr14:65710000-65710400	Flanking Active TSS	Stomach Mucosa	stomach
42	chr14:65710000-65710400	Weak transcription	NHLF	lung
43	chr14:65710000-65710800	Enhancers	K562	blood
44	chr14:65710000-65711400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr14:65710000-65711600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:65710000-65711800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:65710000-65712800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:65710200-65710800	Enhancers	Dnd41	blood
49	chr14:65710200-65711000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:65710400-65711000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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