Variant report

Variant	nsv983839
Chromosome Location	chr14:69549759-69552559
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:69550115-69550184	K562	blood:	n/a	n/a
2	CTCF	chr14:69550324-69550344	Lung_OC	lung:	n/a	n/a
3	EP300	chr14:69550012-69550242	K562	blood:	n/a	n/a
4	ESR1	chr14:69549538-69549853	ECC-1	luminal epithelium:	n/a	n/a
5	ESR1	chr14:69549543-69549941	T-47D	breast:	n/a	n/a
6	ESR1	chr14:69549498-69549851	ECC-1	luminal epithelium:	n/a	n/a
7	ESR1	chr14:69549486-69549903	ECC-1	luminal epithelium:	n/a	n/a
8	ESR1	chr14:69549583-69549939	T-47D	breast:	n/a	n/a
9	ESR1	chr14:69549548-69549838	ECC-1	luminal epithelium:	n/a	n/a
10	JUND	chr14:69550032-69550174	K562	blood:	n/a	n/a
11	JUND	chr14:69550900-69550939	HepG2	liver:	n/a	chr14:69550917-69550926 chr14:69550916-69550926 chr14:69550916-69550926 chr14:69550915-69550927 chr14:69550915-69550926 chr14:69550916-69550926 chr14:69550916-69550926
12	MYC	chr14:69550074-69550209	K562	blood:	n/a	chr14:69550126-69550135
13	POLR2A	chr14:69550092-69550161	K562	blood:	n/a	n/a
14	POLR2A	chr14:69550179-69550334	ProgFib	skin:	n/a	n/a
15	POLR2A	chr14:69550998-69551034	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69467533..69469594-chr14:69550393..69552619,2	MCF-7	breast:
2	chr14:69258210..69261150-chr14:69551788..69553676,2	K562	blood:
3	chr14:69259378..69261150-chr14:69551788..69554130,2	K562	blood:
4	chr14:69550303..69552561-chr14:69553940..69555928,2	K562	blood:
5	chr14:69444534..69446893-chr14:69551925..69555091,4	MCF-7	breast:
6	chr14:69444633..69447006-chr14:69552248..69554665,3	MCF-7	breast:
7	chr14:69548253..69551559-chr14:69552320..69554344,3	MCF-7	breast:
8	chr14:69525287..69527543-chr14:69551601..69554143,2	K562	blood:

Variant related genes	Relation type
DDX18P1	TF binding region
ENSG00000185650	chromatin interactions
ENSG00000259062	chromatin interactions
ENSG00000072110	chromatin interactions
ENSG00000259165	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10498527	chr14:69549762-69549763	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529736620	chr14:69549778-69549779	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs548160893	chr14:69549862-69549863	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566580755	chr14:69549936-69549937	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs11158782	chr14:69549964-69549965	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs551981145	chr14:69549974-69549975	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188674226	chr14:69549980-69549981	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141805011	chr14:69550016-69550017	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs538036605	chr14:69550033-69550034	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs115667164	chr14:69550060-69550061	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs569917817	chr14:69550180-69550181	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535461773	chr14:69550186-69550187	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193020925	chr14:69550223-69550224	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572341947	chr14:69550241-69550242	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546326472	chr14:69550257-69550258	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557949740	chr14:69550287-69550288	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533918410	chr14:69550297-69550298	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371724309	chr14:69550298-69550299	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6573868	chr14:69550327-69550328	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184118643	chr14:69550330-69550331	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150611954	chr14:69550351-69550352	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542135970	chr14:69550360-69550361	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186684513	chr14:69550384-69550385	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139722903	chr14:69550385-69550386	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552280829	chr14:69550420-69550421	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191347544	chr14:69550559-69550560	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183926803	chr14:69550599-69550600	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549919083	chr14:69550610-69550611	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188631728	chr14:69550617-69550618	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535788971	chr14:69550634-69550635	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554042765	chr14:69550655-69550656	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550063886	chr14:69550663-69550664	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566094984	chr14:69550698-69550699	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55876098	chr14:69550713-69550714	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539435477	chr14:69550763-69550764	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193001836	chr14:69550787-69550788	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369071001	chr14:69550789-69550790	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576411235	chr14:69550863-69550864	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544428166	chr14:69550866-69550867	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145767871	chr14:69550876-69550877	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574681169	chr14:69550895-69550896	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542171014	chr14:69550905-69550906	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560171239	chr14:69550906-69550907	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527294204	chr14:69550928-69550929	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114883503	chr14:69550951-69550952	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564213644	chr14:69551035-69551036	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531271252	chr14:69551103-69551104	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556680610	chr14:69551112-69551113	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568363023	chr14:69551115-69551116	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548818874	chr14:69551134-69551135	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
2	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:69523600-69550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:69523600-69553400	Weak transcription	Brain Angular Gyrus	brain
6	chr14:69523600-69556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:69524000-69557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:69524800-69556600	Weak transcription	Fetal Brain Male	brain
9	chr14:69527000-69558200	Weak transcription	Esophagus	oesophagus
10	chr14:69528600-69550600	Weak transcription	Spleen	Spleen
11	chr14:69528600-69560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:69528800-69550600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:69535600-69565200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr14:69536000-69553200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:69536200-69556400	Weak transcription	K562	blood
16	chr14:69540000-69551400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:69540400-69560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:69540800-69551600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr14:69541000-69550800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:69541000-69556200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:69541000-69556400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:69541200-69550200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:69541400-69553600	Weak transcription	Brain Substantia Nigra	brain
24	chr14:69541400-69559800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:69541600-69550000	Weak transcription	Colonic Mucosa	Colon
26	chr14:69541600-69556400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:69541800-69550800	Weak transcription	Brain Anterior Caudate	brain
28	chr14:69541800-69553800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:69542000-69550600	Weak transcription	Fetal Brain Female	brain
30	chr14:69542000-69553200	Weak transcription	Brain Germinal Matrix	brain
31	chr14:69542000-69554600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr14:69542200-69550000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:69542600-69570600	Strong transcription	Primary T cells from cord blood	blood
34	chr14:69543000-69559000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:69544400-69550800	Weak transcription	Lung	lung
36	chr14:69545200-69550600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:69545800-69559000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:69546000-69553400	Weak transcription	Aorta	Aorta
39	chr14:69546000-69563200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:69546200-69550000	Strong transcription	Primary B cells from cord blood	blood
41	chr14:69546200-69556400	Weak transcription	Gastric	stomach
42	chr14:69546200-69556400	Weak transcription	Right Ventricle	heart
43	chr14:69546200-69559000	Strong transcription	GM12878-XiMat	blood
44	chr14:69546200-69559200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:69546200-69583000	Weak transcription	Psoas Muscle	Psoas
46	chr14:69546400-69550800	Weak transcription	Colon Smooth Muscle	Colon
47	chr14:69546400-69553400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:69546400-69557600	Weak transcription	Pancreas	Pancrea
49	chr14:69546400-69558600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:69546600-69550600	Weak transcription	Primary hematopoietic stem cells	blood

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