Variant report

Variant	nsv933628
Chromosome Location	chr7:146762650-146794398
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146771218..146771738-chrX:153626554..153627086,2	Hela-S3	cervix:
2	chr7:146761282..146763181-chr7:146763573..146765951,2	K562	blood:
3	chr7:146761282..146763181-chr7:146763573..146765951,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EZH2-4	chr7:146782785-146782914	ENSG00000236795.1
2	lnc-EZH2-4	chr7:146778026-146779180	ENSG00000236795.1
3	lnc-EZH2-4	chr7:146779632-146780313	ENSG00000236795.1

No data

Variant related genes	Relation type
ENSG00000147403	chromatin interactions

Extended variants
information (count: 887 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:887 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542709723	chr7:146765800-146765801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559153426	chr7:146765877-146765878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566387699	chr7:146765896-146765897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148597632	chr7:146765897-146765898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553894817	chr7:146765913-146765914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544787293	chr7:146765918-146765919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145650750	chr7:146765971-146765972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77391189	chr7:146766024-146766025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369449308	chr7:146766056-146766057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550740641	chr7:146766061-146766062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10225201	chr7:146766088-146766089	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529999374	chr7:146766120-146766121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547093007	chr7:146766136-146766137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566937921	chr7:146766147-146766148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115941398	chr7:146766153-146766154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181930942	chr7:146766179-146766180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs57260717	chr7:146767022-146767023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189775827	chr7:146767058-146767059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575120800	chr7:146767070-146767071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544042828	chr7:146767071-146767072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377358570	chr7:146767147-146767148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527809932	chr7:146767168-146767169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574624893	chr7:146767203-146767204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180707903	chr7:146767217-146767218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11979139	chr7:146767235-146767236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs186271942	chr7:146767253-146767254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192132033	chr7:146767297-146767298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2215339	chr7:146767320-146767321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368144189	chr7:146767344-146767345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150966681	chr7:146767376-146767377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531964174	chr7:146767377-146767378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs740809	chr7:146767404-146767405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs549811212	chr7:146767435-146767436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572314242	chr7:146767441-146767442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538439891	chr7:146767473-146767474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116100183	chr7:146767488-146767489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547638893	chr7:146767512-146767513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566136803	chr7:146767551-146767552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs740810	chr7:146767576-146767577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184022891	chr7:146767595-146767596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188526342	chr7:146767642-146767643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538073262	chr7:146767649-146767650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554465634	chr7:146767739-146767740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191760210	chr7:146767751-146767752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536366535	chr7:146767762-146767763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2215340	chr7:146767798-146767799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560458491	chr7:146767819-146767820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10260427	chr7:146767829-146767830	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182744694	chr7:146767853-146767854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs16883263	chr7:146767858-146767859	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146765800-146766200	Enhancers	Fetal Heart	heart
2	chr7:146767000-146767400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:146767400-146768000	Enhancers	Fetal Lung	lung
4	chr7:146767400-146768800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:146767800-146769600	Enhancers	Fetal Kidney	kidney
6	chr7:146768800-146769000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr7:146768800-146769400	Enhancers	Duodenum Mucosa	Duodenum
8	chr7:146769000-146769200	Enhancers	Pancreas	Pancrea
9	chr7:146769200-146780200	Weak transcription	Pancreas	Pancrea
10	chr7:146769600-146777200	Weak transcription	Fetal Kidney	kidney
11	chr7:146774800-146775600	Enhancers	Fetal Heart	heart
12	chr7:146775200-146776400	Enhancers	Fetal Brain Male	brain
13	chr7:146775600-146775800	Enhancers	Fetal Brain Female	brain
14	chr7:146775800-146778200	Weak transcription	Fetal Brain Female	brain
15	chr7:146776400-146777200	Weak transcription	Fetal Brain Male	brain
16	chr7:146777000-146777200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr7:146777200-146777400	Enhancers	Fetal Kidney	kidney
18	chr7:146777200-146778800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:146777200-146780400	Enhancers	Fetal Brain Male	brain
20	chr7:146778200-146779400	Enhancers	Fetal Brain Female	brain
21	chr7:146778800-146779000	Weak transcription	Fetal Intestine Small	intestine
22	chr7:146778800-146779200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:146778800-146779200	Active TSS	Stomach Mucosa	stomach
24	chr7:146778800-146779600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr7:146779000-146779400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:146779000-146779400	Active TSS	Duodenum Mucosa	Duodenum
27	chr7:146779000-146779600	Enhancers	Fetal Intestine Small	intestine
28	chr7:146779200-146779600	Enhancers	Stomach Mucosa	stomach
29	chr7:146779200-146782400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:146779600-146781400	Weak transcription	Stomach Mucosa	stomach
31	chr7:146780200-146780400	Enhancers	Pancreas	Pancrea
32	chr7:146780400-146785600	Weak transcription	Fetal Brain Male	brain
33	chr7:146782400-146782600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:146784000-146784400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:146785600-146787600	Enhancers	Fetal Brain Male	brain
36	chr7:146785800-146786400	Enhancers	Fetal Heart	heart
37	chr7:146785800-146786400	Enhancers	Fetal Muscle Leg	muscle
38	chr7:146785800-146786600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:146786000-146786200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:146786000-146786400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:146786000-146786400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr7:146786000-146786800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:146786200-146786400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:146786200-146786600	Enhancers	HSMMtube	muscle
45	chr7:146786400-146786600	Flanking Active TSS	Fetal Heart	heart
46	chr7:146786600-146786800	Enhancers	Fetal Heart	heart
47	chr7:146786800-146787000	Flanking Active TSS	Fetal Heart	heart
48	chr7:146787000-146787400	Enhancers	Fetal Heart	heart

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