Variant report

Variant	esv3388405
Chromosome Location	chr4:141939352-141941400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558158483	chr4:141939438-141939439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531195211	chr4:141939467-141939468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552925961	chr4:141939513-141939514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570304701	chr4:141939621-141939622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529941746	chr4:141939631-141939632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546366835	chr4:141939639-141939640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568191958	chr4:141939676-141939677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79576115	chr4:141939726-141939727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556706665	chr4:141939789-141939790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575120831	chr4:141939846-141939847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192428229	chr4:141939887-141939888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558043332	chr4:141939909-141939910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374914532	chr4:141939966-141939967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145284837	chr4:141939976-141939977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79415587	chr4:141940050-141940051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4245936	chr4:141940074-141940075	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs35243261	chr4:141940085-141940086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72466688	chr4:141940188-141940189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10527652	chr4:141940216-141940217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs70946789	chr4:141940232-141940233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4245937	chr4:141940234-141940235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4383693	chr4:141940277-141940278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542358417	chr4:141940278-141940279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111562277	chr4:141940297-141940298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531129230	chr4:141940298-141940299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574573496	chr4:141940312-141940313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552862518	chr4:141940364-141940365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545652931	chr4:141940419-141940420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370314795	chr4:141940485-141940486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564838727	chr4:141940529-141940530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528069045	chr4:141940649-141940650	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187046128	chr4:141940662-141940663	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568044506	chr4:141940669-141940670	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375118014	chr4:141940702-141940703	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1899424	chr4:141940713-141940714	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568671592	chr4:141940738-141940739	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137887212	chr4:141940794-141940795	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190101907	chr4:141940824-141940825	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542062699	chr4:141940830-141940831	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549101186	chr4:141940845-141940846	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567365308	chr4:141940914-141940915	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534694330	chr4:141940929-141940930	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554293601	chr4:141940944-141940945	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182716582	chr4:141940955-141940956	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142408337	chr4:141940977-141940978	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186622621	chr4:141940991-141940992	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191426226	chr4:141940997-141940998	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73849490	chr4:141941005-141941006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200213420	chr4:141941074-141941075	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs575898933	chr4:141941097-141941098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:141925200-141942200	Weak transcription	Aorta	Aorta
2	chr4:141929200-141955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:141934000-141941400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:141937200-141944000	Enhancers	Rectal Smooth Muscle	rectum
5	chr4:141937600-141942800	Weak transcription	Right Atrium	heart
6	chr4:141937800-141939600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:141937800-141941200	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:141938000-141939600	Weak transcription	Left Ventricle	heart
9	chr4:141938200-141940600	Enhancers	Colon Smooth Muscle	Colon
10	chr4:141938200-141941400	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:141938200-141942800	Weak transcription	Right Ventricle	heart
12	chr4:141938400-141941400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:141938600-141941000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:141938800-141941600	Weak transcription	NHLF	lung
15	chr4:141939000-141940000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:141939000-141940200	Enhancers	Fetal Stomach	stomach
17	chr4:141939200-141940000	Enhancers	Ovary	ovary
18	chr4:141939200-141940800	Enhancers	Fetal Heart	heart
19	chr4:141939400-141942600	Enhancers	Fetal Brain Male	brain
20	chr4:141939600-141940000	Enhancers	Left Ventricle	heart
21	chr4:141939600-141942000	Enhancers	Stomach Smooth Muscle	stomach
22	chr4:141939800-141940000	Enhancers	Fetal Brain Female	brain
23	chr4:141940000-141941000	Weak transcription	Fetal Brain Female	brain
24	chr4:141940000-141941400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:141940000-141941400	Weak transcription	Left Ventricle	heart
26	chr4:141940000-141941400	Weak transcription	Ovary	ovary
27	chr4:141940200-141940600	Weak transcription	Fetal Stomach	stomach
28	chr4:141940600-141942000	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr4:141940600-141943800	Enhancers	Fetal Stomach	stomach
30	chr4:141940800-141941000	Flanking Active TSS	Fetal Heart	heart
31	chr4:141940800-141943600	Enhancers	Fetal Kidney	kidney
32	chr4:141940800-141944000	Enhancers	Fetal Lung	lung
33	chr4:141941000-141941400	Enhancers	Fetal Heart	heart
34	chr4:141941000-141943800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:141941000-141943800	Enhancers	Fetal Brain Female	brain
36	chr4:141941200-141942000	Enhancers	Brain Hippocampus Middle	brain
37	chr4:141941400-141942600	Flanking Active TSS	Fetal Heart	heart
38	chr4:141941400-141942800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:141941400-141942800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:141941400-141943000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:141941400-141943200	Enhancers	Left Ventricle	heart
42	chr4:141941400-141943200	Enhancers	Ovary	ovary
43	chr4:141941400-141943200	Enhancers	Psoas Muscle	Psoas
44	chr4:141941400-141943400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:141941400-141943600	Enhancers	NHDF-Ad	bronchial
46	chr4:141941400-141943800	Enhancers	Adipose Nuclei	Adipose
47	chr4:141941400-141943800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr4:141941400-141943800	Enhancers	Fetal Muscle Leg	muscle
49	chr4:141941400-141943800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr4:141941400-141943800	Enhancers	Skeletal Muscle Female	skeletal muscle

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