Variant report

Variant	nsv1037589
Chromosome Location	chr14:44417863-44441701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:44429802..44430574-chr20:39327036..39327797,2	MCF-7	breast:
2	chr14:44430928..44433388-chr14:44437033..44439809,2	MCF-7	breast:
3	chr14:44430928..44433388-chr14:44437033..44439809,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229771	chromatin interactions

Extended variants
information (count: 253 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1951560	chr14:44417863-44417864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183373514	chr14:44417903-44417904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150813038	chr14:44417945-44417946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10148396	chr14:44417958-44417959	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543579664	chr14:44417981-44417982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56104214	chr14:44418015-44418016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187661703	chr14:44418046-44418047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138139477	chr14:44418057-44418058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377207136	chr14:44418077-44418078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149574611	chr14:44418094-44418095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544337647	chr14:44418144-44418145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557756880	chr14:44418166-44418167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527688994	chr14:44418189-44418190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs36165994	chr14:44418230-44418231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191777268	chr14:44418232-44418233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183987657	chr14:44418255-44418256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531748441	chr14:44418266-44418267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550341370	chr14:44418287-44418288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199681708	chr14:44418348-44418349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7160967	chr14:44418349-44418350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375410482	chr14:44418350-44418351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35539825	chr14:44418359-44418360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539879538	chr14:44418452-44418453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560385610	chr14:44418455-44418456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536101356	chr14:44418473-44418474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554516403	chr14:44418496-44418497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565648628	chr14:44418534-44418535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12896525	chr14:44418536-44418537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12896523	chr14:44418575-44418576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs7161485	chr14:44418590-44418591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543192340	chr14:44418593-44418594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192192946	chr14:44418622-44418623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12896950	chr14:44418623-44418624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184566864	chr14:44418648-44418649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374829090	chr14:44418730-44418731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367582818	chr14:44418763-44418764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190297396	chr14:44418808-44418809	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs564365692	chr14:44418839-44418840	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs531831459	chr14:44418860-44418861	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs371808800	chr14:44418867-44418868	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs182523561	chr14:44418886-44418887	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs144589580	chr14:44418959-44418960	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs139444903	chr14:44418962-44418963	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs548078719	chr14:44418967-44418968	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs566352483	chr14:44418969-44418970	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs372395781	chr14:44419011-44419012	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186707341	chr14:44419074-44419075	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs142525031	chr14:44419163-44419164	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs370022606	chr14:44419194-44419195	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs576063065	chr14:44419196-44419197	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44415000-44418000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:44417800-44418800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr14:44417800-44419400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:44418000-44419600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr14:44418000-44419600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:44418000-44419600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:44418200-44419400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:44418400-44419200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr14:44418400-44419400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:44418400-44419600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:44418600-44419000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:44418600-44419200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:44418600-44419400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:44418600-44419400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:44418600-44419600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:44418800-44419200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr14:44419000-44419200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr14:44419200-44419600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr14:44419200-44422200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:44422200-44422400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr14:44425600-44427200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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