Variant report

Variant	nsv520846
Chromosome Location	chr14:104358076-104359121
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104332785..104335222-chr14:104358563..104360147,2	MCF-7	breast:
2	chr14:104346303..104349191-chr14:104358619..104360504,2	MCF-7	breast:
3	chr14:104311422..104315545-chr14:104356597..104360992,6	MCF-7	breast:
4	chr14:104321542..104325039-chr14:104354434..104358481,6	MCF-7	breast:
5	chr14:104308464..104311195-chr14:104356027..104358587,2	MCF-7	breast:
6	chr14:104342467..104345187-chr14:104355394..104358113,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TDRD9-3	chr14:104358583-104361100	l_1075_NR_024396

No data

Variant related genes	Relation type
ENSG00000088808	chromatin interactions
ENSG00000258735	chromatin interactions
ENSG00000258534	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4900601	chr14:104358076-104358077	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571388149	chr14:104358077-104358078	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs17101902	chr14:104358094-104358095	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs142894018	chr14:104358104-104358105	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs1005542	chr14:104358152-104358153	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536503746	chr14:104358169-104358170	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375085875	chr14:104358172-104358173	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528912722	chr14:104358173-104358174	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs367915804	chr14:104358185-104358186	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs573129920	chr14:104358355-104358356	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545015359	chr14:104358391-104358392	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548972390	chr14:104358404-104358405	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558612070	chr14:104358419-104358420	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575394133	chr14:104358556-104358557	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs376998740	chr14:104358598-104358599	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs544339543	chr14:104358601-104358602	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs565646492	chr14:104358608-104358609	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs534452876	chr14:104358626-104358627	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs191022580	chr14:104358642-104358643	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs369648610	chr14:104358645-104358646	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs529474414	chr14:104358665-104358666	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs542752350	chr14:104358686-104358687	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs559793699	chr14:104358687-104358688	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs551446213	chr14:104358700-104358701	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs528788952	chr14:104358734-104358735	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs551348343	chr14:104358755-104358756	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs571325062	chr14:104358757-104358758	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs530887530	chr14:104358785-104358786	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs550801889	chr14:104358802-104358803	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs72712848	chr14:104358931-104358932	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs571399464	chr14:104358932-104358933	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs567411653	chr14:104358933-104358934	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs149763043	chr14:104358934-104358935	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs145648375	chr14:104358943-104358944	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs566752698	chr14:104358961-104358962	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs76040905	chr14:104358987-104358988	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs148469808	chr14:104358990-104358991	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs575333924	chr14:104358994-104358995	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs536801257	chr14:104359015-104359016	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs117457650	chr14:104359033-104359034	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs531268902	chr14:104359034-104359035	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs7145372	chr14:104359121-104359122	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:95)

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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104347000-104362800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:104347200-104362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104351200-104358200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:104352000-104359000	Enhancers	Pancreas	Pancrea
5	chr14:104353200-104358400	Enhancers	Stomach Mucosa	stomach
6	chr14:104353600-104362800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:104354600-104358800	Flanking Active TSS	HepG2	liver
8	chr14:104355000-104359000	Enhancers	Spleen	Spleen
9	chr14:104355600-104358200	Enhancers	Adipose Nuclei	Adipose
10	chr14:104355600-104360200	Weak transcription	Fetal Intestine Small	intestine
11	chr14:104355800-104358200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr14:104355800-104358400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr14:104355800-104362200	Enhancers	Liver	Liver
14	chr14:104356000-104358200	Enhancers	Fetal Muscle Leg	muscle
15	chr14:104356000-104362400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:104356400-104362800	Weak transcription	NHEK	skin
17	chr14:104356800-104360600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:104356800-104364000	Weak transcription	HMEC	breast
19	chr14:104357200-104360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:104357400-104360200	Weak transcription	Colonic Mucosa	Colon
21	chr14:104357400-104360200	Weak transcription	Placenta	Placenta
22	chr14:104357600-104358400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr14:104357600-104360600	Weak transcription	Lung	lung
24	chr14:104357600-104362800	Weak transcription	Small Intestine	intestine
25	chr14:104357800-104360000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:104357800-104360200	Weak transcription	Esophagus	oesophagus
27	chr14:104357800-104360200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:104357800-104360600	Weak transcription	Left Ventricle	heart
29	chr14:104357800-104363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:104357800-104363400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:104358000-104358200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:104358000-104360000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:104358000-104360200	Weak transcription	Gastric	stomach
34	chr14:104358000-104360800	Weak transcription	Right Ventricle	heart
35	chr14:104358400-104358800	Weak transcription	Stomach Mucosa	stomach
36	chr14:104358400-104360800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:104358800-104359000	Enhancers	Stomach Mucosa	stomach
38	chr14:104358800-104359600	Enhancers	HepG2	liver
39	chr14:104359000-104360000	Weak transcription	Pancreas	Pancrea
40	chr14:104359000-104360200	Weak transcription	Stomach Mucosa	stomach
41	chr14:104359000-104360200	Weak transcription	Spleen	Spleen

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