Variant report

Variant	nsv976820
Chromosome Location	chr14:32860301-32873799
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:32862310..32864166-chr14:32889384..32891592,2	MCF-7	breast:
2	chr14:32866943..32869881-chr14:32876415..32878628,2	MCF-7	breast:
3	chr14:32864947..32867000-chr14:32868325..32869881,2	MCF-7	breast:
4	chr14:32864947..32867000-chr14:32868325..32869881,2	MCF-7	breast:
5	chr14:32842992..32845241-chr14:32865436..32867391,2	MCF-7	breast:
6	chr14:32848788..32851684-chr14:32867343..32869134,2	MCF-7	breast:
7	chr14:32854265..32856331-chr14:32866756..32868974,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf126-6	chr14:32872250-32872600	ENSG00000258580.1

No data

Extended variants
information (count: 464 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139413240	chr14:32860320-32860321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540426531	chr14:32860331-32860332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150051708	chr14:32860433-32860434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529147926	chr14:32860435-32860436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145470424	chr14:32860466-32860467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148409783	chr14:32860492-32860493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374162419	chr14:32860493-32860494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550996323	chr14:32860562-32860563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377730528	chr14:32860579-32860580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145009289	chr14:32860617-32860618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1951182	chr14:32860683-32860684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568568576	chr14:32860735-32860736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189570447	chr14:32860746-32860747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1951183	chr14:32860751-32860752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1951184	chr14:32860768-32860769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546198878	chr14:32860772-32860773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558233475	chr14:32860793-32860794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181545471	chr14:32860794-32860795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147598673	chr14:32860822-32860823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561874752	chr14:32860823-32860824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529099271	chr14:32860824-32860825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544460271	chr14:32860853-32860854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142056862	chr14:32860867-32860868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572787184	chr14:32860879-32860880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114354182	chr14:32860885-32860886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113854504	chr14:32860887-32860888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113425039	chr14:32860918-32860919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1951185	chr14:32860927-32860928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552484099	chr14:32861027-32861028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548804474	chr14:32861053-32861054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543116653	chr14:32861058-32861059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151184812	chr14:32861154-32861155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535659190	chr14:32861253-32861254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187162802	chr14:32861303-32861304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557562481	chr14:32861331-32861332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532421563	chr14:32861343-32861344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569569433	chr14:32861406-32861407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376644897	chr14:32861435-32861436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369135532	chr14:32861456-32861457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140401239	chr14:32861543-32861544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558143880	chr14:32861652-32861653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2031106	chr14:32861709-32861710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540693387	chr14:32861783-32861784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112581660	chr14:32861789-32861790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12372852	chr14:32861795-32861796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544054937	chr14:32861831-32861832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150368443	chr14:32861853-32861854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577505140	chr14:32861869-32861870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371405448	chr14:32861904-32861905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559211586	chr14:32861952-32861953	Weak transcription	n/a	n/a	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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	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
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32849000-32867400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:32854200-32866600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:32860000-32860400	Enhancers	Fetal Heart	heart
4	chr14:32860200-32860400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:32860200-32860400	Enhancers	Brain Cingulate Gyrus	brain
6	chr14:32860200-32860800	Enhancers	Brain Substantia Nigra	brain
7	chr14:32860200-32865600	Weak transcription	Left Ventricle	heart
8	chr14:32860400-32863800	Weak transcription	Fetal Heart	heart
9	chr14:32860600-32865600	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:32860800-32863600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:32860800-32865600	Weak transcription	Brain Substantia Nigra	brain
12	chr14:32862000-32867000	Weak transcription	Brain Germinal Matrix	brain
13	chr14:32862400-32864400	Enhancers	Brain Anterior Caudate	brain
14	chr14:32862600-32863800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:32863400-32863600	Enhancers	Brain Angular Gyrus	brain
16	chr14:32863600-32863800	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:32863600-32865400	Weak transcription	Brain Angular Gyrus	brain
18	chr14:32863800-32864000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:32863800-32864400	Enhancers	Fetal Heart	heart
20	chr14:32863800-32865000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr14:32863800-32865400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:32864000-32865400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:32864200-32864400	Enhancers	Psoas Muscle	Psoas
24	chr14:32864400-32865400	Weak transcription	Brain Anterior Caudate	brain
25	chr14:32864400-32866800	Weak transcription	Fetal Heart	heart
26	chr14:32865000-32867800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr14:32865400-32865600	Enhancers	Fetal Brain Male	brain
28	chr14:32865400-32865800	Enhancers	Esophagus	oesophagus
29	chr14:32865400-32866200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:32865400-32868000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr14:32865400-32868000	Enhancers	Brain Angular Gyrus	brain
32	chr14:32865400-32868800	Enhancers	Brain Cingulate Gyrus	brain
33	chr14:32865400-32871400	Enhancers	Brain Anterior Caudate	brain
34	chr14:32865600-32865800	Enhancers	Brain Substantia Nigra	brain
35	chr14:32865600-32865800	Enhancers	Left Ventricle	heart
36	chr14:32865600-32866200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr14:32865600-32866200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr14:32865600-32866400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:32865600-32866800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:32865600-32868000	Enhancers	NHEK	skin
41	chr14:32865600-32868400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:32865600-32868800	Enhancers	Brain Hippocampus Middle	brain
43	chr14:32865600-32876400	Weak transcription	Fetal Brain Male	brain
44	chr14:32865800-32866000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr14:32865800-32866200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr14:32865800-32866200	Weak transcription	Brain Substantia Nigra	brain
47	chr14:32865800-32866200	Weak transcription	Left Ventricle	heart
48	chr14:32866000-32866400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:32866000-32867400	Weak transcription	Psoas Muscle	Psoas
50	chr14:32866000-32869000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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