Variant report

Variant	nsv1034346
Chromosome Location	chr7:146326815-146367793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:144849072..144851097-chr7:146354909..146357646,2	K562	blood:

Extended variants
information (count: 1171 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1171 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373834003	chr7:146330218-146330219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111288059	chr7:146330238-146330239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563775024	chr7:146330243-146330244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532780457	chr7:146330251-146330252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372496182	chr7:146330280-146330281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550783526	chr7:146330286-146330287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556219283	chr7:146330294-146330295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139037889	chr7:146330308-146330309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529046962	chr7:146330364-146330365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548949226	chr7:146330376-146330377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565979766	chr7:146330400-146330401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534942449	chr7:146330468-146330469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115140253	chr7:146330494-146330495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530617616	chr7:146330504-146330505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537070548	chr7:146330538-146330539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557378399	chr7:146330647-146330648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551994657	chr7:146330649-146330650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536841474	chr7:146330671-146330672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116171641	chr7:146330673-146330674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35739314	chr7:146330679-146330680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573186040	chr7:146330783-146330784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376145598	chr7:146330786-146330787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570323844	chr7:146330794-146330795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6976634	chr7:146330801-146330802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545263145	chr7:146330838-146330839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558844555	chr7:146330839-146330840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577519124	chr7:146330846-146330847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187859530	chr7:146330847-146330848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80137872	chr7:146330859-146330860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369048812	chr7:146330899-146330900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10230569	chr7:146330919-146330920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546180364	chr7:146330943-146330944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60993956	chr7:146330948-146330949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139608505	chr7:146330949-146330950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193122507	chr7:146330955-146330956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529027660	chr7:146330988-146330989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542824814	chr7:146330997-146330998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13229827	chr7:146331010-146331011	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567929026	chr7:146331058-146331059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528309079	chr7:146331061-146331062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551670871	chr7:146331066-146331067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185318039	chr7:146331080-146331081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13229953	chr7:146331091-146331092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188696444	chr7:146331104-146331105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567744194	chr7:146331156-146331157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536381440	chr7:146331167-146331168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553067973	chr7:146331185-146331186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192533937	chr7:146331190-146331191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556757692	chr7:146331211-146331212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538850604	chr7:146331223-146331224	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146330200-146331600	Enhancers	Fetal Brain Male	brain
2	chr7:146330400-146331200	Enhancers	Fetal Brain Female	brain
3	chr7:146331200-146334200	Enhancers	Brain Germinal Matrix	brain
4	chr7:146331600-146333200	Weak transcription	Fetal Brain Male	brain
5	chr7:146332000-146333200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:146332200-146333200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:146332200-146333400	Enhancers	Fetal Thymus	thymus
8	chr7:146332400-146332800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:146332400-146333000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:146332400-146333000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:146332400-146333200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:146332400-146333200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:146332400-146333200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:146332400-146333200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:146332600-146333200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:146332600-146333400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:146332800-146333200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:146333000-146333400	Enhancers	Thymus	Thymus
19	chr7:146333000-146333800	Enhancers	Fetal Kidney	kidney
20	chr7:146333200-146334000	Enhancers	Fetal Brain Male	brain
21	chr7:146333200-146334000	Enhancers	Fetal Stomach	stomach
22	chr7:146333200-146334800	Enhancers	Fetal Lung	lung
23	chr7:146333400-146338200	Weak transcription	Fetal Thymus	thymus
24	chr7:146338200-146338800	Enhancers	Fetal Thymus	thymus
25	chr7:146338800-146342200	Weak transcription	Fetal Thymus	thymus
26	chr7:146342200-146343200	Enhancers	Fetal Thymus	thymus
27	chr7:146342400-146342600	Enhancers	Pancreas	Pancrea
28	chr7:146342400-146342600	Enhancers	Thymus	Thymus
29	chr7:146342400-146343400	Enhancers	Primary hematopoietic stem cells	blood
30	chr7:146342400-146343400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:146342400-146345400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:146342600-146345200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:146342800-146344000	Weak transcription	Pancreas	Pancrea
34	chr7:146343200-146343400	Enhancers	Thymus	Thymus
35	chr7:146343200-146343600	Weak transcription	Fetal Thymus	thymus
36	chr7:146343400-146348800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:146343600-146345200	Enhancers	Fetal Thymus	thymus
38	chr7:146344000-146344200	Enhancers	Pancreas	Pancrea
39	chr7:146344200-146345000	Weak transcription	Pancreas	Pancrea
40	chr7:146345000-146345200	Enhancers	Pancreas	Pancrea
41	chr7:146345200-146348400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:146345200-146353200	Weak transcription	Fetal Thymus	thymus
43	chr7:146345400-146348200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:146348200-146352800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:146348400-146355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:146348600-146355000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr7:146348800-146350400	Enhancers	Primary hematopoietic stem cells	blood
48	chr7:146350000-146351400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:146350400-146351400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:146350800-146351600	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links