Variant report

Variant	esv2760332
Chromosome Location	chr14:46732068-46867489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:46718996..46719973-chr14:46813315..46814211,4	MCF-7	breast:
2	chr14:46719211..46719811-chr14:46813566..46814094,2	MCF-7	breast:
3	chr14:46517075..46517958-chr14:46813262..46814074,4	MCF-7	breast:
4	chr14:46737193..46737995-chr4:28770057..28770960,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-6	chr14:46788016-46788064	ENSG00000258700

Extended variants
information (count: 2119 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2119 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs858892	chr14:46732068-46732069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs548102251	chr14:46732106-46732107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376013893	chr14:46732139-46732140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188586897	chr14:46732143-46732144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578150678	chr14:46732155-46732156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542110356	chr14:46732170-46732171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192766907	chr14:46732209-46732210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551861492	chr14:46732238-46732239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534236772	chr14:46732241-46732242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554229822	chr14:46732259-46732260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570169996	chr14:46732299-46732300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs858893	chr14:46732338-46732339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555494971	chr14:46732347-46732348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556046200	chr14:46732391-46732392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567686452	chr14:46732454-46732455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72686628	chr14:46732484-46732485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370316725	chr14:46732509-46732510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs66531414	chr14:46732517-46732518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577406879	chr14:46732521-46732522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576625036	chr14:46732529-46732530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544812797	chr14:46732530-46732531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184881730	chr14:46732557-46732558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545264048	chr14:46732564-46732565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79233135	chr14:46732583-46732584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189345408	chr14:46732695-46732696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142920611	chr14:46732751-46732752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572822679	chr14:46732753-46732754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541354434	chr14:46732755-46732756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17738186	chr14:46732760-46732761	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150255124	chr14:46732765-46732766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533520473	chr14:46732788-46732789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374866725	chr14:46732817-46732818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28743162	chr14:46732922-46732923	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563739797	chr14:46732926-46732927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183616716	chr14:46732967-46732968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549485037	chr14:46733000-46733001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567550410	chr14:46733052-46733053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535058450	chr14:46733065-46733066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151070076	chr14:46733071-46733072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571210711	chr14:46733104-46733105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56018325	chr14:46733112-46733113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556751989	chr14:46733119-46733120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575128810	chr14:46733142-46733143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535942098	chr14:46733169-46733170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34898005	chr14:46733193-46733194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115090167	chr14:46733199-46733200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549303082	chr14:46733285-46733286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569046243	chr14:46733300-46733301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572738824	chr14:46733312-46733313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs386777123	chr14:46733357-46733358	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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46725800-46740400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:46731600-46733000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:46740400-46740600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:46740600-46748200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:46748200-46749600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:46748400-46749200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:46748800-46749200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr14:46749400-46749800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:46775400-46775800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:46775400-46776000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:46780200-46780400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:46780800-46781200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:46781000-46781200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:46784800-46785600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:46784800-46785600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:46785600-46790400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:46785600-46790600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:46788200-46788600	Active TSS	Left Ventricle	heart
19	chr14:46790400-46790600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr14:46790400-46790800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr14:46790400-46791000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr14:46790400-46792400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:46790400-46792600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:46790400-46792800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr14:46790400-46795200	Enhancers	Primary hematopoietic stem cells	blood
26	chr14:46790600-46795400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:46790800-46791000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr14:46790800-46791000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr14:46790800-46791200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:46790800-46791600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr14:46790800-46792000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:46790800-46792800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr14:46791000-46791200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr14:46791000-46791400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr14:46791000-46791400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr14:46791000-46791600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr14:46791200-46791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:46791200-46791600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr14:46791200-46791800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:46791200-46792000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:46791200-46792400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:46791200-46792800	Enhancers	Fetal Kidney	kidney
43	chr14:46791400-46791600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr14:46791400-46791800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr14:46791600-46791800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr14:46791600-46791800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
47	chr14:46791600-46792000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
48	chr14:46791600-46792200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:46791600-46792200	Enhancers	HUVEC	blood vessel
50	chr14:46791600-46792400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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