Variant report

Variant	nsv1016943
Chromosome Location	chr7:146231122-146254660
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
2	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
3	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
4	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
5	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
6	chr16:70557427..70557946-chr7:146244932..146245452,2	Hela-S3	cervix:
7	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
8	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000103051	chromatin interactions
ENSG00000189091	chromatin interactions

Extended variants
information (count: 566 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187099014	chr7:146231407-146231408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191137944	chr7:146231414-146231415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114276456	chr7:146231432-146231433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147875415	chr7:146231433-146231434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553630909	chr7:146231449-146231450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373291212	chr7:146231450-146231451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573242503	chr7:146231505-146231506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs801931	chr7:146231510-146231511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370249351	chr7:146231513-146231514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183739227	chr7:146231537-146231538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187651472	chr7:146231557-146231558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1405165	chr7:146231564-146231565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs801930	chr7:146231573-146231574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141899696	chr7:146231575-146231576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs801929	chr7:146231612-146231613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs193298739	chr7:146231613-146231614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs801928	chr7:146231674-146231675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs812414	chr7:146231708-146231709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs801927	chr7:146231736-146231737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs801926	chr7:146231750-146231751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557226512	chr7:146231771-146231772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566120740	chr7:146231789-146231790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373945003	chr7:146231793-146231794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185126208	chr7:146231850-146231851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77891498	chr7:146231851-146231852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553292373	chr7:146231873-146231874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536772219	chr7:146231988-146231989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190079723	chr7:146231996-146231997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559088310	chr7:146232018-146232019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558608195	chr7:146232019-146232020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577335434	chr7:146232095-146232096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60837142	chr7:146232102-146232103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561372122	chr7:146232108-146232109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559574031	chr7:146232128-146232129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574803353	chr7:146232152-146232153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55677502	chr7:146232176-146232177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28633925	chr7:146232182-146232183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11767983	chr7:146232183-146232184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58486216	chr7:146232188-146232189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71536210	chr7:146232193-146232194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13224866	chr7:146232195-146232196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56313343	chr7:146232196-146232197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71165011	chr7:146232204-146232205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57298104	chr7:146232205-146232206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372094011	chr7:146232206-146232207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542447617	chr7:146232207-146232208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376687116	chr7:146232215-146232216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6967050	chr7:146232216-146232217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60950765	chr7:146232218-146232219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370018150	chr7:146232220-146232221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	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	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Epilepsy	20502679	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146231400-146242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:146235400-146235600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:146235600-146236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:146236200-146237800	Enhancers	Fetal Kidney	kidney
5	chr7:146236600-146237000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:146238800-146239400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:146239000-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:146239200-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links