Variant report

Variant	nsv824389
Chromosome Location	chr7:149483565-149484393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:149484023..149486893-chr7:149499166..149501510,2	K562	blood:
2	chr7:149467684..149471867-chr7:149482733..149487472,6	K562	blood:
3	chr7:149416557..149419178-chr7:149484233..149488617,3	K562	blood:
4	chr7:149484191..149484692-chr7:149580431..149580931,2	K562	blood:
5	chr7:149482558..149484845-chr7:149519799..149522299,2	K562	blood:

Variant related genes	Relation type
ENSG00000133619	chromatin interactions
ENSG00000181444	chromatin interactions
ENSG00000197558	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554025550	chr7:149483574-149483575	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs141968084	chr7:149483596-149483597	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572610838	chr7:149483606-149483607	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566619198	chr7:149483627-149483628	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538468683	chr7:149483647-149483648	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs76505709	chr7:149483649-149483650	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs3779111	chr7:149483671-149483672	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185640939	chr7:149483721-149483722	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34960784	chr7:149483731-149483732	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537425513	chr7:149483764-149483765	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557430524	chr7:149483831-149483832	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs78421504	chr7:149483896-149483897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543062968	chr7:149483897-149483898	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559603504	chr7:149483912-149483913	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs3779112	chr7:149483917-149483918	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531719330	chr7:149483930-149483931	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs180750556	chr7:149483952-149483953	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs565219503	chr7:149483982-149483983	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs531145638	chr7:149483999-149484000	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs550153718	chr7:149484005-149484006	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560987843	chr7:149484010-149484011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529664743	chr7:149484024-149484025	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546638930	chr7:149484036-149484037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs3823697	chr7:149484048-149484049	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562764684	chr7:149484060-149484061	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs552436323	chr7:149484072-149484073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs185197217	chr7:149484077-149484078	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538189104	chr7:149484124-149484125	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533124998	chr7:149484149-149484150	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs113218964	chr7:149484165-149484166	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs573939683	chr7:149484187-149484188	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs7796804	chr7:149484204-149484205	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553404725	chr7:149484266-149484267	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs573284400	chr7:149484277-149484278	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs370218469	chr7:149484321-149484322	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs145161782	chr7:149484326-149484327	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs565181001	chr7:149484329-149484330	Weak transcription Enhancers	Chromatin interactive region	3 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
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149473800-149534800	Weak transcription	Right Atrium	heart
2	chr7:149475000-149484400	Weak transcription	Pancreas	Pancrea
3	chr7:149480000-149484800	Weak transcription	Left Ventricle	heart
4	chr7:149480800-149484200	Weak transcription	K562	blood
5	chr7:149480800-149484600	Weak transcription	Gastric	stomach
6	chr7:149480800-149484800	Weak transcription	Esophagus	oesophagus
7	chr7:149480800-149486800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:149481000-149484400	Weak transcription	Lung	lung
9	chr7:149481000-149485200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:149481200-149484200	Weak transcription	Fetal Lung	lung
11	chr7:149481200-149484400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:149481200-149484400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:149481200-149484400	Weak transcription	Right Ventricle	heart
14	chr7:149481400-149484400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:149483000-149484200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:149484200-149484400	Enhancers	K562	blood
17	chr7:149484200-149485000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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