Variant report

Variant	nsv515738
Chromosome Location	chr7:50476109-50494207
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:31)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:50313145..50313783-chr7:50485463..50486082,2	MCF-7	breast:
2	chr7:50473369..50477129-chr7:50477815..50481019,4	K562	blood:
3	chr7:50489145..50491557-chr7:50503922..50506424,2	MCF-7	breast:
4	chr7:50131802..50132527-chr7:50485456..50486116,2	K562	blood:
5	chr7:50486332..50488429-chr7:50495573..50497153,2	K562	blood:
6	chr7:50244665..50245593-chr7:50485405..50486013,4	MCF-7	breast:
7	chr7:50181654..50182562-chr7:50485410..50486472,6	MCF-7	breast:
8	chr7:50490774..50493016-chr7:50493621..50495493,2	K562	blood:
9	chr7:50244500..50246080-chr7:50485390..50486198,6	K562	blood:
10	chr7:50244573..50245590-chr7:50485442..50486430,7	MCF-7	breast:
11	chr7:50158832..50160033-chr7:50485413..50486368,7	MCF-7	breast:
12	chr7:50485524..50486325-chr7:50496721..50497605,2	MCF-7	breast:
13	chr7:50474039..50475833-chr7:50475901..50477677,2	K562	blood:
14	chr7:50484672..50487398-chr7:50490393..50493667,4	K562	blood:
15	chr7:50188357..50189315-chr7:50485544..50486298,2	K562	blood:
16	chr7:50475535..50477063-chr7:50479519..50481899,2	K562	blood:
17	chr7:50490774..50493016-chr7:50493621..50495493,2	K562	blood:
18	chr7:50491516..50493659-chr7:50493993..50496799,2	K562	blood:
19	chr7:50473369..50477129-chr7:50477815..50481019,4	K562	blood:
20	chr7:50473414..50475429-chr7:50484863..50486654,2	K562	blood:
21	chr7:50181242..50182508-chr7:50485453..50486419,3	K562	blood:
22	chr7:50198460..50199386-chr7:50485402..50486365,4	K562	blood:
23	chr7:50131789..50132494-chr7:50485491..50486334,3	MCF-7	breast:
24	chr7:50491516..50493659-chr7:50493993..50496799,2	K562	blood:
25	chr7:50467942..50470799-chr7:50474362..50477015,2	K562	blood:
26	chr7:50247609..50248195-chr7:50485491..50486034,2	K562	blood:
27	chr7:50484194..50487347-chr7:50489470..50493667,5	K562	blood:
28	chr7:50475535..50477063-chr7:50479519..50481899,2	K562	blood:
29	chr7:50484672..50487398-chr7:50490393..50493667,4	K562	blood:
30	chr7:50159434..50160127-chr7:50485653..50486534,3	K562	blood:
31	chr7:50484194..50487347-chr7:50489470..50493667,5	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FIGNL1-3	chr7:50485943-50488423	l_3413_chr7:50485640-50488510_testes
2	lnc-FIGNL1-3	chr7:50488429-50488510	l_3413_chr7:50485640-50488510_testes
3	lnc-FIGNL1-3	chr7:50485641-50485875	l_3413_chr7:50485640-50488510_testes

No data

Variant related genes	Relation type
ENSG00000228005	chromatin interactions

Extended variants
information (count: 752 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7789158	chr7:50476109-50476110	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550980296	chr7:50476113-50476114	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs34222340	chr7:50476115-50476116	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs12719019	chr7:50476139-50476140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs117982830	chr7:50476141-50476142	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567341639	chr7:50476204-50476205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536481549	chr7:50476210-50476211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556163968	chr7:50476211-50476212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7789448	chr7:50476261-50476262	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544583367	chr7:50476283-50476284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545900410	chr7:50476286-50476287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372440650	chr7:50476293-50476294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556309529	chr7:50476301-50476302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563999342	chr7:50476340-50476341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140789437	chr7:50476362-50476363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560607020	chr7:50476392-50476393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189950383	chr7:50476399-50476400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183308300	chr7:50476441-50476442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553966895	chr7:50476486-50476487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563009925	chr7:50476492-50476493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532043620	chr7:50476516-50476517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111515702	chr7:50476583-50476584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143020290	chr7:50476607-50476608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527329828	chr7:50476624-50476625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6947399	chr7:50476645-50476646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562299161	chr7:50476665-50476666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567383424	chr7:50476690-50476691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59913779	chr7:50476691-50476692	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs556339375	chr7:50476714-50476715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12113897	chr7:50476736-50476737	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs79441475	chr7:50476778-50476779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74810606	chr7:50476791-50476792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs578061762	chr7:50476856-50476857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540663339	chr7:50476872-50476873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114468627	chr7:50476913-50476914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574099068	chr7:50476959-50476960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35461496	chr7:50476971-50476972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576289248	chr7:50476992-50476993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199885245	chr7:50477015-50477016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34046423	chr7:50477016-50477017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397717279	chr7:50477019-50477020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563102248	chr7:50477034-50477035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147447155	chr7:50477035-50477036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199847452	chr7:50477049-50477050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71538387	chr7:50477050-50477051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545289426	chr7:50477057-50477058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564770351	chr7:50477075-50477076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565272411	chr7:50477083-50477084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139773285	chr7:50477087-50477088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112767236	chr7:50477105-50477106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Multiple myeloma	16616336	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50467000-50477200	Weak transcription	Colonic Mucosa	Colon
2	chr7:50468200-50479800	Weak transcription	Gastric	stomach
3	chr7:50469000-50476800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:50469000-50480600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:50470600-50485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:50470800-50477400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:50472200-50483800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:50472400-50486400	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:50472600-50477400	Weak transcription	Dnd41	blood
10	chr7:50472600-50479000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:50473200-50477000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:50473400-50476200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:50473400-50477600	Enhancers	GM12878-XiMat	blood
14	chr7:50473600-50476600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:50473600-50477400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr7:50473800-50476600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:50474000-50479600	Enhancers	Fetal Thymus	thymus
18	chr7:50474400-50478200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:50474400-50483600	Enhancers	Primary B cells from cord blood	blood
20	chr7:50475000-50476800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr7:50475000-50477600	Weak transcription	Primary T cells from cord blood	blood
22	chr7:50475000-50477600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr7:50475200-50477800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:50475400-50476200	Enhancers	Thymus	Thymus
25	chr7:50475400-50477000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:50475400-50477800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:50475400-50483800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:50475600-50478000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:50475800-50476200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:50475800-50476200	Flanking Active TSS	Spleen	Spleen
31	chr7:50476000-50476600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:50476200-50476400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr7:50476200-50477000	Enhancers	Spleen	Spleen
34	chr7:50476200-50477200	Weak transcription	Thymus	Thymus
35	chr7:50476200-50479600	Enhancers	Primary hematopoietic stem cells	blood
36	chr7:50476400-50477600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:50476600-50479400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:50476600-50479600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:50476600-50479800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:50476800-50477200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:50476800-50478600	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:50477000-50478000	Weak transcription	Spleen	Spleen
43	chr7:50477000-50479400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr7:50477000-50479400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:50477200-50477400	Enhancers	Colonic Mucosa	Colon
46	chr7:50477200-50477800	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr7:50477200-50478200	Enhancers	Adipose Nuclei	Adipose
48	chr7:50477200-50478200	Enhancers	Placenta	Placenta
49	chr7:50477200-50478600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr7:50477200-50479400	Enhancers	Thymus	Thymus

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