Variant report

Variant	nsv970616
Chromosome Location	chr7:152445992-152447187
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	POLR2A	chr7:152446126-152446128	HUVEC	blood vessel:	n/a	n/a
2	STAT3	chr7:152447131-152447247	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:152443156..152446125-chr7:152457371..152459756,3	K562	blood:
2	chr7:152160527..152162540-chr7:152444435..152446513,2	K562	blood:
3	chr7:152442786..152449495-chr7:152455161..152460241,10	K562	blood:
4	chr7:152447170..152449835-chr7:152450410..152452943,3	K562	blood:

Variant related genes	Relation type
ATP5F1P3	TF binding region
ENSG00000261455	chromatin interactions
ENSG00000133627	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368545157	chr7:152446004-152446005	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs111668088	chr7:152446008-152446009	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148645543	chr7:152446009-152446010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76292287	chr7:152446047-152446048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7793141	chr7:152446055-152446056	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547744341	chr7:152446076-152446077	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs56230822	chr7:152446115-152446116	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569313800	chr7:152446164-152446165	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536746643	chr7:152446178-152446179	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558274944	chr7:152446185-152446186	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576955259	chr7:152446193-152446194	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs78670098	chr7:152446199-152446200	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553155636	chr7:152446215-152446216	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574602671	chr7:152446227-152446228	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542146387	chr7:152446245-152446246	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563668021	chr7:152446289-152446290	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575746724	chr7:152446305-152446306	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs546304691	chr7:152446357-152446358	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs573690738	chr7:152446408-152446409	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs528606064	chr7:152446434-152446435	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112330559	chr7:152446435-152446436	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201638260	chr7:152446452-152446453	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs200028680	chr7:152446465-152446466	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529215272	chr7:152446501-152446502	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs62494295	chr7:152446547-152446548	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529516093	chr7:152446556-152446557	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs117633060	chr7:152446579-152446580	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184842824	chr7:152446584-152446585	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536685923	chr7:152446654-152446655	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533000402	chr7:152446690-152446691	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113948691	chr7:152446694-152446695	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551835581	chr7:152446696-152446697	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570425413	chr7:152446703-152446704	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146378384	chr7:152446718-152446719	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543002074	chr7:152446729-152446730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139698656	chr7:152446813-152446814	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574618663	chr7:152446830-152446831	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535735946	chr7:152446836-152446837	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557326699	chr7:152446848-152446849	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575687792	chr7:152446855-152446856	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546190368	chr7:152446884-152446885	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374428252	chr7:152446897-152446898	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146639632	chr7:152446907-152446908	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573217229	chr7:152446921-152446922	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562691267	chr7:152446963-152446964	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75578789	chr7:152447041-152447042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111811126	chr7:152447099-152447100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201010906	chr7:152447110-152447111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562140609	chr7:152447111-152447112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149778717	chr7:152447121-152447122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152434000-152456200	Weak transcription	Right Atrium	heart
2	chr7:152446400-152447000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:152446600-152446800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:152446800-152450800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:152447000-152450600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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