Variant report

Variant	nsv1025948
Chromosome Location	chr7:146252115-146393151
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
2	chr7:146259240..146261148-chr7:146262758..146264665,2	K562	blood:
3	chr7:146299400..146301210-chr7:146301475..146303018,2	MCF-7	breast:
4	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
5	chr7:144849072..144851097-chr7:146354909..146357646,2	K562	blood:
6	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
7	chr7:146299400..146301210-chr7:146301475..146303018,2	MCF-7	breast:
8	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
9	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
10	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
11	chr7:146259240..146261148-chr7:146262758..146264665,2	K562	blood:
12	chr4:31335976..31336496-chr7:146308823..146309343,2	MCF-7	breast:
13	chr16:283786..286287-chr7:146321086..146324044,2	MCF-7	breast:
14	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167930	chromatin interactions

Extended variants
information (count: 1764 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1764 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550655462	chr7:146260002-146260003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577671310	chr7:146260039-146260040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543567688	chr7:146260052-146260053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573197089	chr7:146260062-146260063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73468424	chr7:146260110-146260111	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144583015	chr7:146260121-146260122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188036913	chr7:146260125-146260126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559263512	chr7:146260179-146260180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2372611	chr7:146260192-146260193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10249254	chr7:146260214-146260215	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs545006428	chr7:146260218-146260219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564999734	chr7:146260238-146260239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191212887	chr7:146260253-146260254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371044148	chr7:146260287-146260288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183716341	chr7:146260305-146260306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73468425	chr7:146260337-146260338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375313458	chr7:146260370-146260371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77297249	chr7:146260374-146260375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77660728	chr7:146260375-146260376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187740306	chr7:146260408-146260409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17586386	chr7:146260418-146260419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551410331	chr7:146260424-146260425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192651994	chr7:146260445-146260446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185602219	chr7:146260528-146260529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144072503	chr7:146260541-146260542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573744778	chr7:146260604-146260605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536089421	chr7:146260626-146260627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190065745	chr7:146260655-146260656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572811908	chr7:146260708-146260709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541665520	chr7:146260713-146260714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544969530	chr7:146260756-146260757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565159210	chr7:146260757-146260758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533097454	chr7:146260768-146260769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538120263	chr7:146262805-146262806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554600552	chr7:146262815-146262816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186419743	chr7:146262925-146262926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190283696	chr7:146262929-146262930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148198312	chr7:146262935-146262936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554260837	chr7:146262970-146262971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10268628	chr7:146262971-146262972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141129958	chr7:146262982-146262983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10243142	chr7:146263055-146263056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182164830	chr7:146263085-146263086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576589924	chr7:146263164-146263165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115590765	chr7:146263229-146263230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562086364	chr7:146263275-146263276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529640757	chr7:146263289-146263290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539848122	chr7:146263371-146263372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117642232	chr7:146279052-146279053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556591317	chr7:146279061-146279062	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Medulloblastoma	21163964	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146260000-146260400	Enhancers	Fetal Kidney	kidney
2	chr7:146260200-146260800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:146262800-146263200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:146262800-146263200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:146262800-146263200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:146262800-146263200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:146262800-146263400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:146262800-146263400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:146263000-146263400	Enhancers	Ovary	ovary
10	chr7:146279000-146279600	Enhancers	Fetal Kidney	kidney
11	chr7:146289000-146290200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:146304600-146305000	Enhancers	Stomach Mucosa	stomach
13	chr7:146316600-146317400	Enhancers	Fetal Brain Female	brain
14	chr7:146321800-146323000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:146326000-146326400	Enhancers	Fetal Lung	lung
16	chr7:146330200-146331600	Enhancers	Fetal Brain Male	brain
17	chr7:146330400-146331200	Enhancers	Fetal Brain Female	brain
18	chr7:146331200-146334200	Enhancers	Brain Germinal Matrix	brain
19	chr7:146331600-146333200	Weak transcription	Fetal Brain Male	brain
20	chr7:146332000-146333200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:146332200-146333200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:146332200-146333400	Enhancers	Fetal Thymus	thymus
23	chr7:146332400-146332800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:146332400-146333000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:146332400-146333000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:146332400-146333200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:146332400-146333200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:146332400-146333200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:146332400-146333200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:146332600-146333200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:146332600-146333400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:146332800-146333200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:146333000-146333400	Enhancers	Thymus	Thymus
34	chr7:146333000-146333800	Enhancers	Fetal Kidney	kidney
35	chr7:146333200-146334000	Enhancers	Fetal Brain Male	brain
36	chr7:146333200-146334000	Enhancers	Fetal Stomach	stomach
37	chr7:146333200-146334800	Enhancers	Fetal Lung	lung
38	chr7:146333400-146338200	Weak transcription	Fetal Thymus	thymus
39	chr7:146338200-146338800	Enhancers	Fetal Thymus	thymus
40	chr7:146338800-146342200	Weak transcription	Fetal Thymus	thymus
41	chr7:146342200-146343200	Enhancers	Fetal Thymus	thymus
42	chr7:146342400-146342600	Enhancers	Pancreas	Pancrea
43	chr7:146342400-146342600	Enhancers	Thymus	Thymus
44	chr7:146342400-146343400	Enhancers	Primary hematopoietic stem cells	blood
45	chr7:146342400-146343400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:146342400-146345400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:146342600-146345200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:146342800-146344000	Weak transcription	Pancreas	Pancrea
49	chr7:146343200-146343400	Enhancers	Thymus	Thymus
50	chr7:146343200-146343600	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links