Variant report

Variant	nsv564386
Chromosome Location	chr14:38311855-38365605
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:28)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:38178359..38181904-chr14:38339541..38344216,4	MCF-7	breast:
2	chr14:37715320..37716132-chr14:38343587..38344326,2	MCF-7	breast:
3	chr14:38177834..38178487-chr14:38343555..38344210,2	MCF-7	breast:
4	chr14:38056746..38059083-chr14:38363861..38366801,2	MCF-7	breast:
5	chr14:38338833..38341519-chr14:38342499..38345279,2	MCF-7	breast:
6	chr14:37715448..37716190-chr14:38343588..38344540,3	MCF-7	breast:
7	chr14:38317873..38320611-chr14:38331977..38333787,2	MCF-7	breast:
8	chr14:38051959..38054896-chr14:38346073..38349054,2	MCF-7	breast:
9	chr14:37724664..37726988-chr14:38331777..38333562,2	MCF-7	breast:
10	chr14:38363021..38365119-chr14:38365586..38368317,2	MCF-7	breast:
11	chr14:38339276..38342707-chr14:38343768..38347145,3	MCF-7	breast:
12	chr14:38343955..38346094-chr14:38346760..38348457,2	MCF-7	breast:
13	chr14:38339276..38342707-chr14:38343768..38347145,3	MCF-7	breast:
14	chr14:38054286..38055806-chr14:38336745..38339551,2	MCF-7	breast:
15	chr14:38317873..38320611-chr14:38331977..38333787,2	MCF-7	breast:
16	chr14:38060189..38065879-chr14:38339920..38349339,20	MCF-7	breast:
17	chr14:38055655..38059490-chr14:38342768..38346428,4	MCF-7	breast:
18	chr14:38178183..38179217-chr14:38343472..38344512,5	MCF-7	breast:
19	chr14:38063198..38065699-chr14:38312720..38314688,2	MCF-7	breast:
20	chr14:38062426..38066513-chr14:38338443..38346839,18	MCF-7	breast:
21	chr14:38179396..38181240-chr14:38325278..38326866,2	MCF-7	breast:
22	chr14:38343955..38346094-chr14:38346760..38348457,2	MCF-7	breast:
23	chr14:38060569..38062165-chr14:38339643..38341361,2	MCF-7	breast:
24	chr14:38338833..38341519-chr14:38342499..38345279,2	MCF-7	breast:
25	chr14:37720959..37721697-chr14:38343187..38344314,3	MCF-7	breast:
26	chr14:38178580..38179381-chr14:38343573..38344582,8	MCF-7	breast:
27	chr14:38357219..38359040-chr6:27806229..27807862,2	MCF-7	breast:
28	chr14:38363021..38365119-chr14:38365586..38368317,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIPOL1-6	chr14:38332971-38338005	NONHSAT036473
2	lnc-MIPOL1-6	chr14:38320042-38321184	NONHSAT036473
3	lnc-FOXA1-2	chr14:38365265-38368615	XLOC_010999
4	lnc-MIPOL1-6	chr14:38343586-38344006	NONHSAT036473
5	lnc-MIPOL1-6	chr14:38350870-38351237	NONHSAT036473

No data

Variant related genes	Relation type
ENSG00000233822	chromatin interactions
ENSG00000129514	chromatin interactions
ENSG00000139865	chromatin interactions

Extended variants
information (count: 1496 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1496 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190620800	chr14:38312728-38312729	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs144951518	chr14:38312763-38312764	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs192502917	chr14:38312825-38312826	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs202235959	chr14:38312837-38312838	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs115509574	chr14:38312838-38312839	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs183480424	chr14:38312869-38312870	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556465099	chr14:38312988-38312989	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs73260792	chr14:38312990-38312991	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs188210504	chr14:38313017-38313018	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558293071	chr14:38313020-38313021	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375252525	chr14:38313058-38313059	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs578079649	chr14:38313068-38313069	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs148635198	chr14:38313072-38313073	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375407712	chr14:38313076-38313077	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560765002	chr14:38313106-38313107	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1952778	chr14:38313179-38313180	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542929618	chr14:38313188-38313189	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562814629	chr14:38313242-38313243	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375098639	chr14:38313279-38313280	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs181086970	chr14:38313354-38313355	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs17107188	chr14:38313373-38313374	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564716037	chr14:38313388-38313389	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs527426888	chr14:38313407-38313408	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs370023825	chr14:38313418-38313419	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531883214	chr14:38313431-38313432	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs375350680	chr14:38313444-38313445	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs547161966	chr14:38313445-38313446	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568979280	chr14:38313459-38313460	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs146659207	chr14:38313468-38313469	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs76553942	chr14:38313480-38313481	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529824286	chr14:38313525-38313526	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550105650	chr14:38313569-38313570	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs140442388	chr14:38313626-38313627	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs145578726	chr14:38313627-38313628	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs558231651	chr14:38313665-38313666	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs571530132	chr14:38313691-38313692	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs186417870	chr14:38313719-38313720	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs189740868	chr14:38313752-38313753	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs76518963	chr14:38313762-38313763	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs369017259	chr14:38313781-38313782	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs71935758	chr14:38313784-38313785	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs112212829	chr14:38313787-38313788	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs534844089	chr14:38313788-38313789	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs146510251	chr14:38313798-38313799	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556446212	chr14:38313818-38313819	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs576366202	chr14:38313826-38313827	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs373359230	chr14:38313864-38313865	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs181819256	chr14:38313933-38313934	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs79722137	chr14:38313987-38313988	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs527259471	chr14:38313997-38313998	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38313200-38313800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:38313400-38315000	Enhancers	HepG2	liver
3	chr14:38315000-38317400	Weak transcription	HepG2	liver
4	chr14:38317400-38319600	Enhancers	HepG2	liver
5	chr14:38324600-38326600	Enhancers	Fetal Lung	lung
6	chr14:38324800-38325400	Enhancers	Liver	Liver
7	chr14:38325400-38333200	Weak transcription	Liver	Liver
8	chr14:38327000-38329200	Enhancers	HepG2	liver
9	chr14:38329200-38331400	Weak transcription	HepG2	liver
10	chr14:38331400-38331600	Enhancers	Esophagus	oesophagus
11	chr14:38331400-38332000	Enhancers	HepG2	liver
12	chr14:38331600-38333400	Weak transcription	Esophagus	oesophagus
13	chr14:38331800-38332000	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr14:38332000-38333000	Weak transcription	HepG2	liver
15	chr14:38332400-38343600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:38333000-38333400	Enhancers	HepG2	liver
17	chr14:38333200-38334600	Enhancers	Liver	Liver
18	chr14:38333400-38334800	Enhancers	Esophagus	oesophagus
19	chr14:38333400-38334800	Enhancers	Stomach Mucosa	stomach
20	chr14:38333400-38335000	Enhancers	Stomach Smooth Muscle	stomach
21	chr14:38333400-38335600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr14:38333400-38335600	Enhancers	Colon Smooth Muscle	Colon
23	chr14:38333400-38335600	Enhancers	Rectal Smooth Muscle	rectum
24	chr14:38333400-38335800	Flanking Active TSS	HepG2	liver
25	chr14:38333600-38334000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:38333600-38334200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:38334000-38334200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:38334000-38334400	Enhancers	Brain Cingulate Gyrus	brain
29	chr14:38334000-38334400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:38334000-38334600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr14:38334000-38334800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr14:38334000-38334800	Enhancers	A549	lung
33	chr14:38334000-38334800	Enhancers	NHDF-Ad	bronchial
34	chr14:38334000-38335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:38334000-38335000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr14:38334000-38335000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:38334000-38335000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr14:38334000-38335000	Enhancers	Fetal Stomach	stomach
39	chr14:38334000-38335600	Enhancers	HSMM	muscle
40	chr14:38334200-38334400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:38334200-38334800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:38334200-38334800	Enhancers	Adipose Nuclei	Adipose
43	chr14:38334200-38334800	Enhancers	HMEC	breast
44	chr14:38334200-38335000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr14:38334200-38335000	Enhancers	NHEK	skin
46	chr14:38334200-38335200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:38334200-38335600	Enhancers	Gastric	stomach
48	chr14:38334200-38335600	Enhancers	HSMMtube	muscle
49	chr14:38334600-38334800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:38334600-38335000	Flanking Active TSS	Liver	Liver

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