Variant report

Variant	nsv880169
Chromosome Location	chr4:142005573-142038481
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	chr4:141865472..141867411-chr4:142030563..142032115,2	MCF-7	breast:
2	chr4:141993258..141995559-chr4:142015374..142017330,2	MCF-7	breast:

Extended variants
information (count: 1208 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1208 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10007052	chr4:142005573-142005574	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs10018636	chr4:142005589-142005590	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539647803	chr4:142005601-142005602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112387052	chr4:142005667-142005668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545478495	chr4:142005683-142005684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551214004	chr4:142005684-142005685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556843392	chr4:142005693-142005694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527858761	chr4:142005703-142005704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10007212	chr4:142005753-142005754	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561403332	chr4:142005795-142005796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532078695	chr4:142005827-142005828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549502391	chr4:142005839-142005840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553614938	chr4:142005848-142005849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570871865	chr4:142005853-142005854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113438722	chr4:142005885-142005886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72933018	chr4:142005914-142005915	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562775728	chr4:142005995-142005996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565455181	chr4:142006018-142006019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55702317	chr4:142006025-142006026	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186185353	chr4:142006029-142006030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188553855	chr4:142006042-142006043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542325030	chr4:142006051-142006052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537389972	chr4:142006082-142006083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6833216	chr4:142006133-142006134	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138362965	chr4:142006171-142006172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545439657	chr4:142006214-142006215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377301770	chr4:142006215-142006216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76750562	chr4:142006227-142006228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186740064	chr4:142006260-142006261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542851109	chr4:142006304-142006305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561570102	chr4:142006332-142006333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567243891	chr4:142006339-142006340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141897223	chr4:142006383-142006384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112094163	chr4:142006389-142006390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565260181	chr4:142006530-142006531	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190733287	chr4:142006539-142006540	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138603655	chr4:142006542-142006543	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375489057	chr4:142006544-142006545	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529841435	chr4:142006563-142006564	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548069733	chr4:142006576-142006577	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569791850	chr4:142006590-142006591	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536856907	chr4:142006609-142006610	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552471476	chr4:142006613-142006614	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553210822	chr4:142006629-142006630	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570773792	chr4:142006648-142006649	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539013182	chr4:142006685-142006686	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554256541	chr4:142006695-142006696	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572438557	chr4:142006710-142006711	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73851910	chr4:142006758-142006759	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139433861	chr4:142006785-142006786	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21510904	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:141996000-142006400	Weak transcription	Aorta	Aorta
2	chr4:141999200-142014000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:142000800-142031600	Weak transcription	Right Ventricle	heart
4	chr4:142001000-142014200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:142001200-142012600	Weak transcription	Ovary	ovary
6	chr4:142002200-142006400	Weak transcription	Left Ventricle	heart
7	chr4:142003600-142015600	Weak transcription	Fetal Stomach	stomach
8	chr4:142003600-142021000	Weak transcription	Fetal Kidney	kidney
9	chr4:142003800-142009000	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:142004200-142006400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:142004200-142006400	Enhancers	Fetal Heart	heart
12	chr4:142005000-142017800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:142005800-142006000	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:142006400-142006800	ZNF genes & repeats	Aorta	Aorta
15	chr4:142006400-142006800	Enhancers	Left Ventricle	heart
16	chr4:142006400-142009600	Weak transcription	Fetal Heart	heart
17	chr4:142006800-142009000	Weak transcription	Left Ventricle	heart
18	chr4:142006800-142011200	Weak transcription	Aorta	Aorta
19	chr4:142008600-142011000	Weak transcription	Fetal Intestine Large	intestine
20	chr4:142009000-142009200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:142009000-142009600	Enhancers	Left Ventricle	heart
22	chr4:142009000-142010400	Strong transcription	Fetal Muscle Leg	muscle
23	chr4:142009200-142011000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:142009600-142010200	Weak transcription	Left Ventricle	heart
25	chr4:142009600-142013000	Enhancers	Fetal Heart	heart
26	chr4:142010200-142010400	Enhancers	Left Ventricle	heart
27	chr4:142010400-142012000	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:142010400-142013000	Enhancers	Psoas Muscle	Psoas
29	chr4:142010400-142027600	Weak transcription	Left Ventricle	heart
30	chr4:142011000-142011400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:142011000-142013000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr4:142011200-142011400	Enhancers	Aorta	Aorta
33	chr4:142011600-142013200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr4:142012000-142012200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr4:142012000-142012800	Enhancers	Fetal Muscle Leg	muscle
36	chr4:142012600-142013000	Enhancers	Ovary	ovary
37	chr4:142012800-142013000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:142012800-142014800	Weak transcription	Fetal Muscle Leg	muscle
39	chr4:142013000-142040400	Weak transcription	Psoas Muscle	Psoas
40	chr4:142014200-142017800	Weak transcription	Fetal Heart	heart
41	chr4:142015600-142016000	ZNF genes & repeats	Fetal Stomach	stomach
42	chr4:142015800-142018000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:142016000-142018000	Weak transcription	Fetal Stomach	stomach
44	chr4:142017800-142018200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr4:142017800-142018600	Enhancers	Colon Smooth Muscle	Colon
46	chr4:142017800-142020000	Enhancers	Fetal Heart	heart
47	chr4:142018000-142018400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:142018000-142018400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:142018000-142018400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:142018400-142020400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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